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GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 22, 2010
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000136572.5

Allele description [Variation Report for GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1]

GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1

Genes:
  • LOC129991944:ATAC-STARR-seq lymphoblastoid active region 21123 [Gene]
  • LOC129991945:ATAC-STARR-seq lymphoblastoid active region 21124 [Gene]
  • LOC129991946:ATAC-STARR-seq lymphoblastoid active region 21125 [Gene]
  • LOC129991949:ATAC-STARR-seq lymphoblastoid active region 21127 [Gene]
  • LOC129991951:ATAC-STARR-seq lymphoblastoid active region 21129 [Gene]
  • LOC129991954:ATAC-STARR-seq lymphoblastoid active region 21131 [Gene]
  • LOC129991955:ATAC-STARR-seq lymphoblastoid active region 21132 [Gene]
  • LOC129991957:ATAC-STARR-seq lymphoblastoid active region 21134 [Gene]
  • LOC129991959:ATAC-STARR-seq lymphoblastoid active region 21135 [Gene]
  • LOC129991960:ATAC-STARR-seq lymphoblastoid active region 21136 [Gene]
  • LOC129991961:ATAC-STARR-seq lymphoblastoid active region 21137 [Gene]
  • LOC129991964:ATAC-STARR-seq lymphoblastoid active region 21139 [Gene]
  • LOC129991966:ATAC-STARR-seq lymphoblastoid active region 21140 [Gene]
  • LOC129991969:ATAC-STARR-seq lymphoblastoid active region 21141 [Gene]
  • LOC129991970:ATAC-STARR-seq lymphoblastoid active region 21142 [Gene]
  • LOC129991976:ATAC-STARR-seq lymphoblastoid active region 21143 [Gene]
  • LOC129991977:ATAC-STARR-seq lymphoblastoid active region 21145 [Gene]
  • LOC129991978:ATAC-STARR-seq lymphoblastoid active region 21146 [Gene]
  • LOC129991979:ATAC-STARR-seq lymphoblastoid active region 21147 [Gene]
  • LOC129991980:ATAC-STARR-seq lymphoblastoid active region 21148 [Gene]
  • LOC129991982:ATAC-STARR-seq lymphoblastoid active region 21149 [Gene]
  • LOC129991985:ATAC-STARR-seq lymphoblastoid active region 21150 [Gene]
  • LOC129991986:ATAC-STARR-seq lymphoblastoid active region 21151 [Gene]
  • LOC129991987:ATAC-STARR-seq lymphoblastoid active region 21152 [Gene]
  • LOC129991993:ATAC-STARR-seq lymphoblastoid active region 21153 [Gene]
  • LOC129991997:ATAC-STARR-seq lymphoblastoid active region 21154 [Gene]
  • LOC129992002:ATAC-STARR-seq lymphoblastoid active region 21155 [Gene]
  • LOC129992003:ATAC-STARR-seq lymphoblastoid active region 21156 [Gene]
  • LOC129992004:ATAC-STARR-seq lymphoblastoid active region 21157 [Gene]
  • LOC129992005:ATAC-STARR-seq lymphoblastoid active region 21158 [Gene]
  • LOC129992006:ATAC-STARR-seq lymphoblastoid active region 21159 [Gene]
  • LOC129992007:ATAC-STARR-seq lymphoblastoid active region 21160 [Gene]
  • LOC129992013:ATAC-STARR-seq lymphoblastoid active region 21161 [Gene]
  • LOC129992017:ATAC-STARR-seq lymphoblastoid active region 21162 [Gene]
  • LOC129992022:ATAC-STARR-seq lymphoblastoid active region 21164 [Gene]
  • LOC129992029:ATAC-STARR-seq lymphoblastoid active region 21166 [Gene]
  • LOC129992033:ATAC-STARR-seq lymphoblastoid active region 21170 [Gene]
  • LOC129992034:ATAC-STARR-seq lymphoblastoid active region 21171 [Gene]
  • LOC129992035:ATAC-STARR-seq lymphoblastoid active region 21172 [Gene]
  • LOC129992036:ATAC-STARR-seq lymphoblastoid active region 21173 [Gene]
  • LOC129992042:ATAC-STARR-seq lymphoblastoid active region 21175 [Gene]
  • LOC129992043:ATAC-STARR-seq lymphoblastoid active region 21176 [Gene]
  • LOC129992044:ATAC-STARR-seq lymphoblastoid active region 21177 [Gene]
  • LOC129992051:ATAC-STARR-seq lymphoblastoid active region 21178 [Gene]
  • LOC129992052:ATAC-STARR-seq lymphoblastoid active region 21179 [Gene]
  • LOC129992053:ATAC-STARR-seq lymphoblastoid active region 21180 [Gene]
  • LOC129992054:ATAC-STARR-seq lymphoblastoid active region 21181 [Gene]
  • LOC129992055:ATAC-STARR-seq lymphoblastoid active region 21182 [Gene]
  • LOC129992060:ATAC-STARR-seq lymphoblastoid active region 21183 [Gene]
  • LOC129992061:ATAC-STARR-seq lymphoblastoid active region 21184 [Gene]
  • LOC129992062:ATAC-STARR-seq lymphoblastoid active region 21185 [Gene]
  • LOC129992063:ATAC-STARR-seq lymphoblastoid active region 21186 [Gene]
  • LOC129992065:ATAC-STARR-seq lymphoblastoid active region 21188 [Gene]
  • LOC129992066:ATAC-STARR-seq lymphoblastoid active region 21189 [Gene]
  • LOC129992067:ATAC-STARR-seq lymphoblastoid active region 21191 [Gene]
  • LOC129992072:ATAC-STARR-seq lymphoblastoid active region 21192 [Gene]
  • LOC129992073:ATAC-STARR-seq lymphoblastoid active region 21193 [Gene]
  • LOC129992074:ATAC-STARR-seq lymphoblastoid active region 21194 [Gene]
  • LOC129992079:ATAC-STARR-seq lymphoblastoid active region 21195 [Gene]
  • LOC129992080:ATAC-STARR-seq lymphoblastoid active region 21196 [Gene]
  • LOC129992082:ATAC-STARR-seq lymphoblastoid active region 21197 [Gene]
  • LOC129992083:ATAC-STARR-seq lymphoblastoid active region 21198 [Gene]
  • LOC129992084:ATAC-STARR-seq lymphoblastoid active region 21199 [Gene]
  • LOC129992085:ATAC-STARR-seq lymphoblastoid active region 21200 [Gene]
  • LOC129992086:ATAC-STARR-seq lymphoblastoid active region 21201 [Gene]
  • LOC129992087:ATAC-STARR-seq lymphoblastoid active region 21202 [Gene]
  • LOC129992090:ATAC-STARR-seq lymphoblastoid active region 21204 [Gene]
  • LOC129992091:ATAC-STARR-seq lymphoblastoid active region 21205 [Gene]
  • LOC129992093:ATAC-STARR-seq lymphoblastoid active region 21206 [Gene]
  • LOC129992094:ATAC-STARR-seq lymphoblastoid active region 21208 [Gene]
  • LOC129992095:ATAC-STARR-seq lymphoblastoid active region 21209 [Gene]
  • LOC129992096:ATAC-STARR-seq lymphoblastoid active region 21210 [Gene]
  • LOC129992097:ATAC-STARR-seq lymphoblastoid active region 21211 [Gene]
  • LOC129992099:ATAC-STARR-seq lymphoblastoid active region 21212 [Gene]
  • LOC129992100:ATAC-STARR-seq lymphoblastoid active region 21213 [Gene]
  • LOC129992101:ATAC-STARR-seq lymphoblastoid active region 21214 [Gene]
  • LOC129992104:ATAC-STARR-seq lymphoblastoid active region 21215 [Gene]
  • LOC129992105:ATAC-STARR-seq lymphoblastoid active region 21216 [Gene]
  • LOC129992106:ATAC-STARR-seq lymphoblastoid active region 21217 [Gene]
  • LOC129992107:ATAC-STARR-seq lymphoblastoid active region 21218 [Gene]
  • LOC129992112:ATAC-STARR-seq lymphoblastoid active region 21219 [Gene]
  • LOC129992113:ATAC-STARR-seq lymphoblastoid active region 21220 [Gene]
  • LOC129992114:ATAC-STARR-seq lymphoblastoid active region 21222 [Gene]
  • LOC129992115:ATAC-STARR-seq lymphoblastoid active region 21223 [Gene]
  • LOC129992116:ATAC-STARR-seq lymphoblastoid active region 21224 [Gene]
  • LOC129992120:ATAC-STARR-seq lymphoblastoid active region 21225 [Gene]
  • LOC129992122:ATAC-STARR-seq lymphoblastoid active region 21226 [Gene]
  • LOC129992128:ATAC-STARR-seq lymphoblastoid active region 21227 [Gene]
  • LOC129992130:ATAC-STARR-seq lymphoblastoid active region 21228 [Gene]
  • LOC129992131:ATAC-STARR-seq lymphoblastoid active region 21229 [Gene]
  • LOC129992134:ATAC-STARR-seq lymphoblastoid active region 21231 [Gene]
  • LOC129992138:ATAC-STARR-seq lymphoblastoid active region 21235 [Gene]
  • LOC129992139:ATAC-STARR-seq lymphoblastoid active region 21236 [Gene]
  • LOC129992140:ATAC-STARR-seq lymphoblastoid active region 21237 [Gene]
  • LOC129992141:ATAC-STARR-seq lymphoblastoid active region 21240 [Gene]
  • LOC129992142:ATAC-STARR-seq lymphoblastoid active region 21241 [Gene]
  • LOC129992145:ATAC-STARR-seq lymphoblastoid active region 21242 [Gene]
  • LOC129992146:ATAC-STARR-seq lymphoblastoid active region 21243 [Gene]
  • LOC129992148:ATAC-STARR-seq lymphoblastoid active region 21246 [Gene]
  • LOC129992150:ATAC-STARR-seq lymphoblastoid active region 21247 [Gene]
  • LOC129992151:ATAC-STARR-seq lymphoblastoid active region 21248 [Gene]
  • LOC129992152:ATAC-STARR-seq lymphoblastoid active region 21249 [Gene]
  • LOC129992153:ATAC-STARR-seq lymphoblastoid active region 21250 [Gene]
  • LOC129992154:ATAC-STARR-seq lymphoblastoid active region 21251 [Gene]
  • LOC129992155:ATAC-STARR-seq lymphoblastoid active region 21252 [Gene]
  • LOC129992156:ATAC-STARR-seq lymphoblastoid active region 21253 [Gene]
  • LOC129992157:ATAC-STARR-seq lymphoblastoid active region 21254 [Gene]
  • LOC129992158:ATAC-STARR-seq lymphoblastoid active region 21255 [Gene]
  • LOC129992159:ATAC-STARR-seq lymphoblastoid active region 21256 [Gene]
  • LOC129992162:ATAC-STARR-seq lymphoblastoid active region 21257 [Gene]
  • LOC129992163:ATAC-STARR-seq lymphoblastoid active region 21258 [Gene]
  • LOC129992164:ATAC-STARR-seq lymphoblastoid active region 21259 [Gene]
  • LOC129991947:ATAC-STARR-seq lymphoblastoid silent region 15096 [Gene]
  • LOC129991948:ATAC-STARR-seq lymphoblastoid silent region 15097 [Gene]
  • LOC129991950:ATAC-STARR-seq lymphoblastoid silent region 15098 [Gene]
  • LOC129991952:ATAC-STARR-seq lymphoblastoid silent region 15102 [Gene]
  • LOC129991953:ATAC-STARR-seq lymphoblastoid silent region 15103 [Gene]
  • LOC129991956:ATAC-STARR-seq lymphoblastoid silent region 15107 [Gene]
  • LOC129991958:ATAC-STARR-seq lymphoblastoid silent region 15110 [Gene]
  • LOC129991962:ATAC-STARR-seq lymphoblastoid silent region 15111 [Gene]
  • LOC129991963:ATAC-STARR-seq lymphoblastoid silent region 15112 [Gene]
  • LOC129991965:ATAC-STARR-seq lymphoblastoid silent region 15113 [Gene]
  • LOC129991967:ATAC-STARR-seq lymphoblastoid silent region 15114 [Gene]
  • LOC129991968:ATAC-STARR-seq lymphoblastoid silent region 15115 [Gene]
  • LOC129991971:ATAC-STARR-seq lymphoblastoid silent region 15117 [Gene]
  • LOC129991972:ATAC-STARR-seq lymphoblastoid silent region 15118 [Gene]
  • LOC129991973:ATAC-STARR-seq lymphoblastoid silent region 15120 [Gene]
  • LOC129991974:ATAC-STARR-seq lymphoblastoid silent region 15121 [Gene]
  • LOC129991975:ATAC-STARR-seq lymphoblastoid silent region 15122 [Gene]
  • LOC129991981:ATAC-STARR-seq lymphoblastoid silent region 15123 [Gene]
  • LOC129991983:ATAC-STARR-seq lymphoblastoid silent region 15124 [Gene]
  • LOC129991984:ATAC-STARR-seq lymphoblastoid silent region 15125 [Gene]
  • LOC129991988:ATAC-STARR-seq lymphoblastoid silent region 15126 [Gene]
  • LOC129991989:ATAC-STARR-seq lymphoblastoid silent region 15127 [Gene]
  • LOC129991990:ATAC-STARR-seq lymphoblastoid silent region 15128 [Gene]
  • LOC129991991:ATAC-STARR-seq lymphoblastoid silent region 15129 [Gene]
  • LOC129991992:ATAC-STARR-seq lymphoblastoid silent region 15130 [Gene]
  • LOC129991994:ATAC-STARR-seq lymphoblastoid silent region 15132 [Gene]
  • LOC129991995:ATAC-STARR-seq lymphoblastoid silent region 15133 [Gene]
  • LOC129991996:ATAC-STARR-seq lymphoblastoid silent region 15134 [Gene]
  • LOC129991998:ATAC-STARR-seq lymphoblastoid silent region 15136 [Gene]
  • LOC129991999:ATAC-STARR-seq lymphoblastoid silent region 15137 [Gene]
  • LOC129992000:ATAC-STARR-seq lymphoblastoid silent region 15138 [Gene]
  • LOC129992001:ATAC-STARR-seq lymphoblastoid silent region 15139 [Gene]
  • LOC129992008:ATAC-STARR-seq lymphoblastoid silent region 15140 [Gene]
  • LOC129992009:ATAC-STARR-seq lymphoblastoid silent region 15142 [Gene]
  • LOC129992010:ATAC-STARR-seq lymphoblastoid silent region 15143 [Gene]
  • LOC129992011:ATAC-STARR-seq lymphoblastoid silent region 15144 [Gene]
  • LOC129992012:ATAC-STARR-seq lymphoblastoid silent region 15145 [Gene]
  • LOC129992014:ATAC-STARR-seq lymphoblastoid silent region 15148 [Gene]
  • LOC129992015:ATAC-STARR-seq lymphoblastoid silent region 15150 [Gene]
  • LOC129992016:ATAC-STARR-seq lymphoblastoid silent region 15151 [Gene]
  • LOC129992018:ATAC-STARR-seq lymphoblastoid silent region 15152 [Gene]
  • LOC129992019:ATAC-STARR-seq lymphoblastoid silent region 15153 [Gene]
  • LOC129992020:ATAC-STARR-seq lymphoblastoid silent region 15154 [Gene]
  • LOC129992021:ATAC-STARR-seq lymphoblastoid silent region 15155 [Gene]
  • LOC129992023:ATAC-STARR-seq lymphoblastoid silent region 15156 [Gene]
  • LOC129992024:ATAC-STARR-seq lymphoblastoid silent region 15157 [Gene]
  • LOC129992025:ATAC-STARR-seq lymphoblastoid silent region 15158 [Gene]
  • LOC129992026:ATAC-STARR-seq lymphoblastoid silent region 15159 [Gene]
  • LOC129992027:ATAC-STARR-seq lymphoblastoid silent region 15160 [Gene]
  • LOC129992028:ATAC-STARR-seq lymphoblastoid silent region 15161 [Gene]
  • LOC129992030:ATAC-STARR-seq lymphoblastoid silent region 15163 [Gene]
  • LOC129992031:ATAC-STARR-seq lymphoblastoid silent region 15164 [Gene]
  • LOC129992032:ATAC-STARR-seq lymphoblastoid silent region 15165 [Gene]
  • LOC129992037:ATAC-STARR-seq lymphoblastoid silent region 15166 [Gene]
  • LOC129992038:ATAC-STARR-seq lymphoblastoid silent region 15167 [Gene]
  • LOC129992039:ATAC-STARR-seq lymphoblastoid silent region 15168 [Gene]
  • LOC129992040:ATAC-STARR-seq lymphoblastoid silent region 15169 [Gene]
  • LOC129992041:ATAC-STARR-seq lymphoblastoid silent region 15170 [Gene]
  • LOC129992045:ATAC-STARR-seq lymphoblastoid silent region 15171 [Gene]
  • LOC129992046:ATAC-STARR-seq lymphoblastoid silent region 15172 [Gene]
  • LOC129992047:ATAC-STARR-seq lymphoblastoid silent region 15173 [Gene]
  • LOC129992048:ATAC-STARR-seq lymphoblastoid silent region 15174 [Gene]
  • LOC129992049:ATAC-STARR-seq lymphoblastoid silent region 15175 [Gene]
  • LOC129992050:ATAC-STARR-seq lymphoblastoid silent region 15176 [Gene]
  • LOC129992056:ATAC-STARR-seq lymphoblastoid silent region 15178 [Gene]
  • LOC129992057:ATAC-STARR-seq lymphoblastoid silent region 15179 [Gene]
  • LOC129992058:ATAC-STARR-seq lymphoblastoid silent region 15180 [Gene]
  • LOC129992059:ATAC-STARR-seq lymphoblastoid silent region 15181 [Gene]
  • LOC129992064:ATAC-STARR-seq lymphoblastoid silent region 15182 [Gene]
  • LOC129992068:ATAC-STARR-seq lymphoblastoid silent region 15183 [Gene]
  • LOC129992069:ATAC-STARR-seq lymphoblastoid silent region 15184 [Gene]
  • LOC129992070:ATAC-STARR-seq lymphoblastoid silent region 15185 [Gene]
  • LOC129992071:ATAC-STARR-seq lymphoblastoid silent region 15186 [Gene]
  • LOC129992075:ATAC-STARR-seq lymphoblastoid silent region 15187 [Gene]
  • LOC129992076:ATAC-STARR-seq lymphoblastoid silent region 15188 [Gene]
  • LOC129992077:ATAC-STARR-seq lymphoblastoid silent region 15189 [Gene]
  • LOC129992078:ATAC-STARR-seq lymphoblastoid silent region 15190 [Gene]
  • LOC129992081:ATAC-STARR-seq lymphoblastoid silent region 15191 [Gene]
  • LOC129992088:ATAC-STARR-seq lymphoblastoid silent region 15193 [Gene]
  • LOC129992089:ATAC-STARR-seq lymphoblastoid silent region 15194 [Gene]
  • LOC129992092:ATAC-STARR-seq lymphoblastoid silent region 15196 [Gene]
  • LOC129992098:ATAC-STARR-seq lymphoblastoid silent region 15197 [Gene]
  • LOC129992102:ATAC-STARR-seq lymphoblastoid silent region 15198 [Gene]
  • LOC129929027:ATAC-STARR-seq lymphoblastoid silent region 15199 [Gene]
  • LOC129992103:ATAC-STARR-seq lymphoblastoid silent region 15200 [Gene]
  • LOC129992108:ATAC-STARR-seq lymphoblastoid silent region 15201 [Gene]
  • LOC129992109:ATAC-STARR-seq lymphoblastoid silent region 15202 [Gene]
  • LOC129992110:ATAC-STARR-seq lymphoblastoid silent region 15203 [Gene]
  • LOC129992111:ATAC-STARR-seq lymphoblastoid silent region 15204 [Gene]
  • LOC129992117:ATAC-STARR-seq lymphoblastoid silent region 15205 [Gene]
  • LOC129992118:ATAC-STARR-seq lymphoblastoid silent region 15206 [Gene]
  • LOC129992119:ATAC-STARR-seq lymphoblastoid silent region 15207 [Gene]
  • LOC129992121:ATAC-STARR-seq lymphoblastoid silent region 15208 [Gene]
  • LOC129992123:ATAC-STARR-seq lymphoblastoid silent region 15209 [Gene]
  • LOC129992124:ATAC-STARR-seq lymphoblastoid silent region 15210 [Gene]
  • LOC129992125:ATAC-STARR-seq lymphoblastoid silent region 15211 [Gene]
  • LOC129992126:ATAC-STARR-seq lymphoblastoid silent region 15212 [Gene]
  • LOC129992127:ATAC-STARR-seq lymphoblastoid silent region 15213 [Gene]
  • LOC129992129:ATAC-STARR-seq lymphoblastoid silent region 15214 [Gene]
  • LOC129992132:ATAC-STARR-seq lymphoblastoid silent region 15215 [Gene]
  • LOC129992133:ATAC-STARR-seq lymphoblastoid silent region 15216 [Gene]
  • LOC129992135:ATAC-STARR-seq lymphoblastoid silent region 15217 [Gene]
  • LOC129992136:ATAC-STARR-seq lymphoblastoid silent region 15218 [Gene]
  • LOC129992137:ATAC-STARR-seq lymphoblastoid silent region 15219 [Gene]
  • LOC129992143:ATAC-STARR-seq lymphoblastoid silent region 15222 [Gene]
  • LOC129992144:ATAC-STARR-seq lymphoblastoid silent region 15223 [Gene]
  • LOC129992147:ATAC-STARR-seq lymphoblastoid silent region 15224 [Gene]
  • LOC129992149:ATAC-STARR-seq lymphoblastoid silent region 15225 [Gene]
  • LOC129992160:ATAC-STARR-seq lymphoblastoid silent region 15226 [Gene]
  • LOC129992161:ATAC-STARR-seq lymphoblastoid silent region 15227 [Gene]
  • LOC129992165:ATAC-STARR-seq lymphoblastoid silent region 15228 [Gene]
  • ATP5ME:ATP synthase membrane subunit e [Gene - OMIM - HGNC]
  • LOC126806942:BRD4-independent group 4 enhancer GRCh37_chr4:1190349-1191548 [Gene]
  • LOC126806943:BRD4-independent group 4 enhancer GRCh37_chr4:1317288-1318487 [Gene]
  • LOC126806946:BRD4-independent group 4 enhancer GRCh37_chr4:2175172-2176371 [Gene]
  • LOC126806948:BRD4-independent group 4 enhancer GRCh37_chr4:2948362-2949561 [Gene]
  • LOC126806949:BRD4-independent group 4 enhancer GRCh37_chr4:3011160-3012359 [Gene]
  • LOC126806955:BRD4-independent group 4 enhancer GRCh37_chr4:3756063-3757262 [Gene]
  • LOC126806960:BRD4-independent group 4 enhancer GRCh37_chr4:5526681-5527880 [Gene]
  • LOC126806961:BRD4-independent group 4 enhancer GRCh37_chr4:5641443-5642642 [Gene]
  • LOC126806962:BRD4-independent group 4 enhancer GRCh37_chr4:5666069-5667268 [Gene]
  • LOC126806939:BRD4-independent group 4 enhancer GRCh37_chr4:581897-583096 [Gene]
  • LOC126806964:BRD4-independent group 4 enhancer GRCh37_chr4:6050907-6052106 [Gene]
  • CTBP1:C-terminal binding protein 1 [Gene - OMIM - HGNC]
  • LOC126806944:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:1319662-1320861 [Gene]
  • LOC126806951:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:3486115-3487314 [Gene]
  • LOC126806957:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:4782258-4783457 [Gene]
  • LOC126806958:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:5167073-5168272 [Gene]
  • LOC126806940:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:860125-861324 [Gene]
  • LOC126806941:CDK7 strongly-dependent group 2 enhancer GRCh37_chr4:872957-874156 [Gene]
  • LOC116158483:CRISPRi-validated cis-regulatory element chr4.260 [Gene]
  • LOC116158484:CRISPRi-validated cis-regulatory element chr4.319 [Gene]
  • CTBP1-AS:CTBP1 antisense RNA [Gene - HGNC]
  • CTBP1-DT:CTBP1 divergent transcript [Gene - HGNC]
  • POLN:DNA polymerase nu [Gene - OMIM - HGNC]
  • EVC:EvC ciliary complex subunit 1 [Gene - OMIM - HGNC]
  • EVC2:EvC ciliary complex subunit 2 [Gene - OMIM - HGNC]
  • GRK4:G protein-coupled receptor kinase 4 [Gene - OMIM - HGNC]
  • HAUS3:HAUS augmin like complex subunit 3 [Gene - OMIM - HGNC]
  • HGFAC:HGF activator [Gene - OMIM - HGNC]
  • HTT-AS:HTT antisense RNA [Gene - HGNC]
  • JAKMIP1-DT:JAKMIP1 divergent transcript [Gene - HGNC]
  • LRPAP1:LDL receptor related protein associated protein 1 [Gene - OMIM - HGNC]
  • LYAR:Ly1 antibody reactive [Gene - OMIM - HGNC]
  • MXD4:MAX dimerization protein 4 [Gene - OMIM - HGNC]
  • LOC126806950:MED14-independent group 3 enhancer GRCh37_chr4:3417810-3419009 [Gene]
  • LOC126806952:MED14-independent group 3 enhancer GRCh37_chr4:3510576-3511775 [Gene]
  • MSANTD1:Myb/SANT DNA binding domain containing 1 [Gene - HGNC]
  • NAT8L:N-acetyltransferase 8 like [Gene - OMIM - HGNC]
  • NICOL1:NELL2 interacting cell ontogeny regulator 1 [Gene - OMIM - HGNC]
  • LOC111519897:NFE2L2 motif-containing MPRA enhancer 85 [Gene]
  • NKX1-1:NK1 homeobox 1 [Gene - OMIM - HGNC]
  • NOP14-AS1:NOP14 antisense RNA 1 [Gene - HGNC]
  • NOP14:NOP14 nucleolar protein [Gene - OMIM - HGNC]
  • LOC126806945:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:1388225-1389424 [Gene]
  • LOC126806947:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:2937390-2938589 [Gene]
  • LOC126806953:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:3516456-3517655 [Gene]
  • LOC126806954:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:3747634-3748833 [Gene]
  • LOC126806956:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:4764243-4765442 [Gene]
  • LOC126806959:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:5367115-5368314 [Gene]
  • LOC126806963:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr4:5760129-5761328 [Gene]
  • PCGF3-AS1:PCGF3 antisense RNA 1 [Gene - HGNC]
  • PDE6B-AS1:PDE6B antisense RNA 1 [Gene - HGNC]
  • SH3BP2:SH3 domain binding protein 2 [Gene - OMIM - HGNC]
  • STX18-AS1:STX18 antisense RNA 1 (head to head) [Gene - HGNC]
  • STX18-IT1:STX18 intronic transcript 1 [Gene - HGNC]
  • LOC112939930:Sharpr-MPRA regulatory region 10599 [Gene]
  • LOC121048737:Sharpr-MPRA regulatory region 11147 [Gene]
  • LOC123466222:Sharpr-MPRA regulatory region 11527 [Gene]
  • LOC112942284:Sharpr-MPRA regulatory region 11878 [Gene]
  • LOC123466218:Sharpr-MPRA regulatory region 1470 [Gene]
  • LOC114004383:Sharpr-MPRA regulatory region 3424 [Gene]
  • LOC123466219:Sharpr-MPRA regulatory region 6001 [Gene]
  • LOC123466223:Sharpr-MPRA regulatory region 6927 [Gene]
  • LOC114004382:Sharpr-MPRA regulatory region 8056 [Gene]
  • LOC123466217:Sharpr-MPRA regulatory region 8787 [Gene]
  • LOC123466224:Sharpr-MPRA regulatory region 9083 [Gene]
  • LOC123466220:Sharpr-MPRA regulatory region 9480 [Gene]
  • LOC123466221:Sharpr-MPRA regulatory region 9760 [Gene]
  • LOC112939936:Sharpr-MPRA regulatory region 9855 [Gene]
  • TNIP2:TNFAIP3 interacting protein 2 [Gene - OMIM - HGNC]
  • UVSSA:UV stimulated scaffold protein A [Gene - OMIM - HGNC]
  • LOC110120693:VISTA enhancer hs526 [Gene]
  • LOC110120757:VISTA enhancer hs746 [Gene]
  • ADD1:adducin 1 [Gene - OMIM - HGNC]
  • ADRA2C:adrenoceptor alpha 2C [Gene - OMIM - HGNC]
  • IDUA:alpha-L-iduronidase [Gene - OMIM - HGNC]
  • C4orf50:chromosome 4 open reading frame 50 [Gene - HGNC]
  • CFAP99:cilia and flagella associated protein 99 [Gene - HGNC]
  • CRMP1:collapsin response mediator protein 1 [Gene - OMIM - HGNC]
  • CPLX1:complexin 1 [Gene - OMIM - HGNC]
  • GAK:cyclin G associated kinase [Gene - OMIM - HGNC]
  • CRIPAK:cysteine rich PAK1 inhibitor [Gene - OMIM - HGNC]
  • CYTL1:cytokine like 1 [Gene - OMIM - HGNC]
  • DGKQ:diacylglycerol kinase theta [Gene - OMIM - HGNC]
  • DOK7:docking protein 7 [Gene - OMIM - HGNC]
  • FAM193A:family with sequence similarity 193 member A [Gene - OMIM - HGNC]
  • FAM53A:family with sequence similarity 53 member A [Gene - OMIM - HGNC]
  • FGFR3:fibroblast growth factor receptor 3 [Gene - OMIM - HGNC]
  • FGFRL1:fibroblast growth factor receptor like 1 [Gene - OMIM - HGNC]
  • LOC109461479:huntingtin repeat instability region [Gene]
  • HTT:huntingtin [Gene - OMIM - HGNC]
  • JAKMIP1:janus kinase and microtubule interacting protein 1 [Gene - OMIM - HGNC]
  • LETM1:leucine zipper and EF-hand containing transmembrane protein 1 [Gene - OMIM - HGNC]
  • LINC01396:long intergenic non-protein coding RNA 1396 [Gene - HGNC]
  • LINC01587:long intergenic non-protein coding RNA 1587 [Gene - HGNC]
  • LINC02171:long intergenic non-protein coding RNA 2171 [Gene - HGNC]
  • LINC00955:long intergenic non-protein coding RNA 955 [Gene - HGNC]
  • MAEA:macrophage erythroblast attacher, E3 ubiquitin ligase [Gene - OMIM - HGNC]
  • MFSD10:major facilitator superfamily domain containing 10 [Gene - OMIM - HGNC]
  • MIR378D1:microRNA 378d-1 [Gene - HGNC]
  • MIR4800:microRNA 4800 [Gene - HGNC]
  • MIR571:microRNA 571 [Gene - HGNC]
  • MIR943:microRNA 943 [Gene - HGNC]
  • MSX1:msh homeobox 1 [Gene - OMIM - HGNC]
  • MYL5:myosin light chain 5 [Gene - OMIM - HGNC]
  • NELFA:negative elongation factor complex member A [Gene - OMIM - HGNC]
  • NSG1:neuronal vesicle trafficking associated 1 [Gene - OMIM - HGNC]
  • LOC106804089:nonconserved acetylation island sequence 125 enhancer [Gene]
  • NSD2:nuclear receptor binding SET domain protein 2 [Gene - OMIM - HGNC]
  • OTOP1:otopetrin 1 [Gene - OMIM - HGNC]
  • PIGG:phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) [Gene - OMIM - HGNC]
  • PDE6B:phosphodiesterase 6B [Gene - OMIM - HGNC]
  • PCGF3:polycomb group ring finger 3 [Gene - OMIM - HGNC]
  • RGS12:regulator of G protein signaling 12 [Gene - OMIM - HGNC]
  • RNF212:ring finger protein 212 [Gene - OMIM - HGNC]
  • RNF4:ring finger protein 4 [Gene - OMIM - HGNC]
  • STK32B:serine/threonine kinase 32B [Gene - HGNC]
  • SCARNA22:small Cajal body-specific RNA 22 [Gene - HGNC]
  • SNORD162:small nucleolar RNA, C/D box 162 [Gene - HGNC]
  • SLC26A1:solute carrier family 26 member 1 [Gene - OMIM - HGNC]
  • SLC49A3:solute carrier family 49 member 3 [Gene - OMIM - HGNC]
  • SPON2:spondin 2 [Gene - OMIM - HGNC]
  • SLBP:stem-loop histone mRNA binding protein [Gene - OMIM - HGNC]
  • STX18:syntaxin 18 [Gene - OMIM - HGNC]
  • TACC3:transforming acidic coiled-coil containing protein 3 [Gene - OMIM - HGNC]
  • TMEM128:transmembrane protein 128 [Gene - HGNC]
  • TMEM129:transmembrane protein 129, E3 ubiquitin ligase [Gene - OMIM - HGNC]
  • TMEM175:transmembrane protein 175 [Gene - OMIM - HGNC]
  • TMEM271:transmembrane protein 271 [Gene - HGNC]
  • LOC100130872:uncharacterized LOC100130872 [Gene]
  • LOC101928279:uncharacterized LOC101928279 [Gene]
  • LOC101928306:uncharacterized LOC101928306 [Gene]
  • LOC105374338:uncharacterized LOC105374338 [Gene]
  • LOC105374344:uncharacterized LOC105374344 [Gene]
  • LOC128125818:uncharacterized LOC128125818 [Gene]
  • ZFYVE28:zinc finger FYVE-type containing 28 [Gene - OMIM - HGNC]
  • ZBTB49:zinc finger and BTB domain containing 49 [Gene - OMIM - HGNC]
  • ZNF141:zinc finger protein 141 [Gene - OMIM - HGNC]
  • ZNF595:zinc finger protein 595 [Gene - HGNC]
  • ZNF718:zinc finger protein 718 [Gene - HGNC]
  • ZNF721:zinc finger protein 721 [Gene - HGNC]
  • ZNF732:zinc finger protein 732 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
4p16.3-16.1
Genomic location:
Preferred name:
GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1
HGVS:
  • NC_000004.12:g.(?_72555)_(6243425_?)del
  • NC_000004.10:g.(?_62447)_(6296053_?)del
  • NC_000004.11:g.(?_72447)_(6245152_?)del
Links:
dbVar: nssv583048; dbVar: nsv533888
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000176659ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Dec 22, 2010) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 1, SCV000176659.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024