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GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 30, 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:
RCV000134333.3

Allele description [Variation Report for GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1]

GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1

Genes:
  • HIBADH:3-hydroxyisobutyrate dehydrogenase [Gene - OMIM - HGNC]
  • LOC129998028:ATAC-STARR-seq lymphoblastoid active region 25691 [Gene]
  • LOC129998029:ATAC-STARR-seq lymphoblastoid active region 25692 [Gene]
  • LOC129998030:ATAC-STARR-seq lymphoblastoid active region 25693 [Gene]
  • LOC129998031:ATAC-STARR-seq lymphoblastoid active region 25694 [Gene]
  • LOC129998037:ATAC-STARR-seq lymphoblastoid active region 25695 [Gene]
  • LOC129998038:ATAC-STARR-seq lymphoblastoid active region 25696 [Gene]
  • LOC129998039:ATAC-STARR-seq lymphoblastoid active region 25697 [Gene]
  • LOC129998040:ATAC-STARR-seq lymphoblastoid active region 25698 [Gene]
  • LOC129998041:ATAC-STARR-seq lymphoblastoid active region 25699 [Gene]
  • LOC129998045:ATAC-STARR-seq lymphoblastoid active region 25700 [Gene]
  • LOC129998047:ATAC-STARR-seq lymphoblastoid active region 25702 [Gene]
  • LOC129998050:ATAC-STARR-seq lymphoblastoid active region 25704 [Gene]
  • LOC129998051:ATAC-STARR-seq lymphoblastoid active region 25705 [Gene]
  • LOC129998052:ATAC-STARR-seq lymphoblastoid active region 25706 [Gene]
  • LOC129998055:ATAC-STARR-seq lymphoblastoid active region 25707 [Gene]
  • LOC129998056:ATAC-STARR-seq lymphoblastoid active region 25708 [Gene]
  • LOC129998059:ATAC-STARR-seq lymphoblastoid active region 25712 [Gene]
  • LOC129998060:ATAC-STARR-seq lymphoblastoid active region 25713 [Gene]
  • LOC129998062:ATAC-STARR-seq lymphoblastoid active region 25714 [Gene]
  • LOC129998063:ATAC-STARR-seq lymphoblastoid active region 25715 [Gene]
  • LOC129998064:ATAC-STARR-seq lymphoblastoid active region 25719 [Gene]
  • LOC129998065:ATAC-STARR-seq lymphoblastoid active region 25720 [Gene]
  • LOC129998067:ATAC-STARR-seq lymphoblastoid active region 25721 [Gene]
  • LOC129998068:ATAC-STARR-seq lymphoblastoid active region 25722 [Gene]
  • LOC129998069:ATAC-STARR-seq lymphoblastoid active region 25723 [Gene]
  • LOC129998072:ATAC-STARR-seq lymphoblastoid active region 25724 [Gene]
  • LOC129998073:ATAC-STARR-seq lymphoblastoid active region 25725 [Gene]
  • LOC129998074:ATAC-STARR-seq lymphoblastoid active region 25726 [Gene]
  • LOC129998076:ATAC-STARR-seq lymphoblastoid active region 25727 [Gene]
  • LOC129998077:ATAC-STARR-seq lymphoblastoid active region 25728 [Gene]
  • LOC129998079:ATAC-STARR-seq lymphoblastoid active region 25729 [Gene]
  • LOC129998081:ATAC-STARR-seq lymphoblastoid active region 25730 [Gene]
  • LOC129998082:ATAC-STARR-seq lymphoblastoid active region 25731 [Gene]
  • LOC129998083:ATAC-STARR-seq lymphoblastoid active region 25736 [Gene]
  • LOC129998084:ATAC-STARR-seq lymphoblastoid active region 25737 [Gene]
  • LOC129998085:ATAC-STARR-seq lymphoblastoid active region 25738 [Gene]
  • LOC129998088:ATAC-STARR-seq lymphoblastoid active region 25739 [Gene]
  • LOC129998090:ATAC-STARR-seq lymphoblastoid active region 25741 [Gene]
  • LOC129998091:ATAC-STARR-seq lymphoblastoid active region 25742 [Gene]
  • LOC129998092:ATAC-STARR-seq lymphoblastoid active region 25743 [Gene]
  • LOC129998093:ATAC-STARR-seq lymphoblastoid active region 25744 [Gene]
  • LOC129998094:ATAC-STARR-seq lymphoblastoid active region 25746 [Gene]
  • LOC129998095:ATAC-STARR-seq lymphoblastoid active region 25747 [Gene]
  • LOC129998096:ATAC-STARR-seq lymphoblastoid active region 25748 [Gene]
  • LOC129998097:ATAC-STARR-seq lymphoblastoid active region 25749 [Gene]
  • LOC129998098:ATAC-STARR-seq lymphoblastoid active region 25750 [Gene]
  • LOC129998099:ATAC-STARR-seq lymphoblastoid active region 25751 [Gene]
  • LOC129998100:ATAC-STARR-seq lymphoblastoid active region 25752 [Gene]
  • LOC129998101:ATAC-STARR-seq lymphoblastoid active region 25753 [Gene]
  • LOC129998104:ATAC-STARR-seq lymphoblastoid active region 25754 [Gene]
  • LOC129998106:ATAC-STARR-seq lymphoblastoid active region 25755 [Gene]
  • LOC129998107:ATAC-STARR-seq lymphoblastoid active region 25756 [Gene]
  • LOC129998108:ATAC-STARR-seq lymphoblastoid active region 25757 [Gene]
  • LOC129998109:ATAC-STARR-seq lymphoblastoid active region 25758 [Gene]
  • LOC129998110:ATAC-STARR-seq lymphoblastoid active region 25759 [Gene]
  • LOC129998111:ATAC-STARR-seq lymphoblastoid active region 25760 [Gene]
  • LOC129998112:ATAC-STARR-seq lymphoblastoid active region 25761 [Gene]
  • LOC129998115:ATAC-STARR-seq lymphoblastoid active region 25762 [Gene]
  • LOC129998116:ATAC-STARR-seq lymphoblastoid active region 25763 [Gene]
  • LOC129998117:ATAC-STARR-seq lymphoblastoid active region 25764 [Gene]
  • LOC129998118:ATAC-STARR-seq lymphoblastoid active region 25765 [Gene]
  • LOC129998119:ATAC-STARR-seq lymphoblastoid active region 25766 [Gene]
  • LOC129998120:ATAC-STARR-seq lymphoblastoid active region 25767 [Gene]
  • LOC129998121:ATAC-STARR-seq lymphoblastoid active region 25768 [Gene]
  • LOC129998125:ATAC-STARR-seq lymphoblastoid active region 25770 [Gene]
  • LOC129998127:ATAC-STARR-seq lymphoblastoid active region 25771 [Gene]
  • LOC129998128:ATAC-STARR-seq lymphoblastoid active region 25772 [Gene]
  • LOC129998129:ATAC-STARR-seq lymphoblastoid active region 25773 [Gene]
  • LOC129998133:ATAC-STARR-seq lymphoblastoid active region 25774 [Gene]
  • LOC129998134:ATAC-STARR-seq lymphoblastoid active region 25775 [Gene]
  • LOC129998135:ATAC-STARR-seq lymphoblastoid active region 25776 [Gene]
  • LOC129998136:ATAC-STARR-seq lymphoblastoid active region 25777 [Gene]
  • LOC129998137:ATAC-STARR-seq lymphoblastoid active region 25778 [Gene]
  • LOC129998138:ATAC-STARR-seq lymphoblastoid active region 25780 [Gene]
  • LOC129998139:ATAC-STARR-seq lymphoblastoid active region 25781 [Gene]
  • LOC129998140:ATAC-STARR-seq lymphoblastoid active region 25782 [Gene]
  • LOC129998141:ATAC-STARR-seq lymphoblastoid active region 25783 [Gene]
  • LOC129998142:ATAC-STARR-seq lymphoblastoid active region 25784 [Gene]
  • LOC129998143:ATAC-STARR-seq lymphoblastoid active region 25785 [Gene]
  • LOC129998147:ATAC-STARR-seq lymphoblastoid active region 25788 [Gene]
  • LOC129998148:ATAC-STARR-seq lymphoblastoid active region 25789 [Gene]
  • LOC129998151:ATAC-STARR-seq lymphoblastoid active region 25791 [Gene]
  • LOC129998027:ATAC-STARR-seq lymphoblastoid silent region 17989 [Gene]
  • LOC129998032:ATAC-STARR-seq lymphoblastoid silent region 17990 [Gene]
  • LOC129998033:ATAC-STARR-seq lymphoblastoid silent region 17991 [Gene]
  • LOC129998034:ATAC-STARR-seq lymphoblastoid silent region 17992 [Gene]
  • LOC129998035:ATAC-STARR-seq lymphoblastoid silent region 17993 [Gene]
  • LOC129998036:ATAC-STARR-seq lymphoblastoid silent region 17994 [Gene]
  • LOC129998042:ATAC-STARR-seq lymphoblastoid silent region 17995 [Gene]
  • LOC129998043:ATAC-STARR-seq lymphoblastoid silent region 17996 [Gene]
  • LOC129998044:ATAC-STARR-seq lymphoblastoid silent region 17997 [Gene]
  • LOC129998046:ATAC-STARR-seq lymphoblastoid silent region 17998 [Gene]
  • LOC129998048:ATAC-STARR-seq lymphoblastoid silent region 17999 [Gene]
  • LOC129998049:ATAC-STARR-seq lymphoblastoid silent region 18000 [Gene]
  • LOC129998053:ATAC-STARR-seq lymphoblastoid silent region 18001 [Gene]
  • LOC129998054:ATAC-STARR-seq lymphoblastoid silent region 18002 [Gene]
  • LOC129998057:ATAC-STARR-seq lymphoblastoid silent region 18003 [Gene]
  • LOC129998058:ATAC-STARR-seq lymphoblastoid silent region 18004 [Gene]
  • LOC129998061:ATAC-STARR-seq lymphoblastoid silent region 18005 [Gene]
  • LOC129998066:ATAC-STARR-seq lymphoblastoid silent region 18006 [Gene]
  • LOC129998070:ATAC-STARR-seq lymphoblastoid silent region 18007 [Gene]
  • LOC129998071:ATAC-STARR-seq lymphoblastoid silent region 18008 [Gene]
  • LOC129998075:ATAC-STARR-seq lymphoblastoid silent region 18011 [Gene]
  • LOC129998078:ATAC-STARR-seq lymphoblastoid silent region 18012 [Gene]
  • LOC129998080:ATAC-STARR-seq lymphoblastoid silent region 18013 [Gene]
  • LOC129998086:ATAC-STARR-seq lymphoblastoid silent region 18014 [Gene]
  • LOC129998087:ATAC-STARR-seq lymphoblastoid silent region 18015 [Gene]
  • LOC129998089:ATAC-STARR-seq lymphoblastoid silent region 18016 [Gene]
  • LOC129998102:ATAC-STARR-seq lymphoblastoid silent region 18018 [Gene]
  • LOC129998103:ATAC-STARR-seq lymphoblastoid silent region 18019 [Gene]
  • LOC129998105:ATAC-STARR-seq lymphoblastoid silent region 18020 [Gene]
  • LOC129998113:ATAC-STARR-seq lymphoblastoid silent region 18021 [Gene]
  • LOC129998114:ATAC-STARR-seq lymphoblastoid silent region 18022 [Gene]
  • LOC129998122:ATAC-STARR-seq lymphoblastoid silent region 18023 [Gene]
  • LOC129998123:ATAC-STARR-seq lymphoblastoid silent region 18024 [Gene]
  • LOC129998124:ATAC-STARR-seq lymphoblastoid silent region 18025 [Gene]
  • LOC129998126:ATAC-STARR-seq lymphoblastoid silent region 18026 [Gene]
  • LOC129998130:ATAC-STARR-seq lymphoblastoid silent region 18027 [Gene]
  • LOC129998131:ATAC-STARR-seq lymphoblastoid silent region 18028 [Gene]
  • LOC129998132:ATAC-STARR-seq lymphoblastoid silent region 18029 [Gene]
  • LOC129998144:ATAC-STARR-seq lymphoblastoid silent region 18035 [Gene]
  • LOC129998145:ATAC-STARR-seq lymphoblastoid silent region 18036 [Gene]
  • LOC129998146:ATAC-STARR-seq lymphoblastoid silent region 18037 [Gene]
  • LOC129998149:ATAC-STARR-seq lymphoblastoid silent region 18038 [Gene]
  • LOC129998150:ATAC-STARR-seq lymphoblastoid silent region 18040 [Gene]
  • LOC129998152:ATAC-STARR-seq lymphoblastoid silent region 18042 [Gene]
  • ABCB5:ATP binding cassette subfamily B member 5 [Gene - OMIM - HGNC]
  • LOC126859959:BRD4-independent group 4 enhancer GRCh37_chr7:20866537-20867736 [Gene]
  • LOC126859961:BRD4-independent group 4 enhancer GRCh37_chr7:21639662-21640861 [Gene]
  • LOC126859962:BRD4-independent group 4 enhancer GRCh37_chr7:21937780-21938979 [Gene]
  • LOC126859963:BRD4-independent group 4 enhancer GRCh37_chr7:22766269-22767468 [Gene]
  • LOC126859964:BRD4-independent group 4 enhancer GRCh37_chr7:22898129-22899328 [Gene]
  • LOC126859967:BRD4-independent group 4 enhancer GRCh37_chr7:24317744-24318943 [Gene]
  • LOC126859969:BRD4-independent group 4 enhancer GRCh37_chr7:25560334-25561533 [Gene]
  • LOC108254689:CAGE-defined low expression enhancer in LOC100506178-LOC401312 intergenic region [Gene]
  • LOC126859958:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:20681108-20682307 [Gene]
  • LOC126859968:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:24865671-24866870 [Gene]
  • LOC126859971:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:26657384-26658583 [Gene]
  • LOC126859972:CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:27161315-27162514 [Gene]
  • LOC116183086:CRISPRi-validated cis-regulatory element chr7.1154 [Gene]
  • LOC116183087:CRISPRi-validated cis-regulatory element chr7.1155 [Gene]
  • EVX1-AS:EVX1 antisense RNA [Gene - HGNC]
  • LOC111365192:GATA motif-containing MPRA enhancer 55/56 [Gene]
  • LOC111413014:HNF4 motif-containing MPRA enhancer 142 [Gene]
  • HOXA-AS2:HOXA cluster antisense RNA 2 [Gene - OMIM - HGNC]
  • HOXA-AS3:HOXA cluster antisense RNA 3 [Gene - OMIM - HGNC]
  • HOTTIP:HOXA distal transcript antisense RNA [Gene - OMIM - HGNC]
  • HOTAIRM1:HOXA transcript antisense RNA, myeloid-specific 1 [Gene - HGNC]
  • HOXA10-AS:HOXA10 antisense RNA [Gene - HGNC]
  • HOXA10-HOXA9:HOXA10-HOXA9 readthrough [Gene]
  • HOXA11-AS:HOXA11 antisense RNA [Gene - OMIM - HGNC]
  • IL6-AS1:IL6 antisense RNA 1 [Gene - HGNC]
  • ITGB8-AS1:ITGB8 antisense RNA 1 [Gene - HGNC]
  • JAZF1:JAZF zinc finger 1 [Gene - OMIM - HGNC]
  • KIAA0087:KIAA0087 lncRNA [Gene - HGNC]
  • KLHL7-DT:KLHL7 divergent transcript [Gene - HGNC]
  • LOC126859957:MED14-independent group 3 enhancer GRCh37_chr7:20434600-20435799 [Gene]
  • LOC126859970:MED14-independent group 3 enhancer GRCh37_chr7:26589438-26590637 [Gene]
  • LOC126859973:MED14-independent group 3 enhancer GRCh37_chr7:27717219-27718418 [Gene]
  • MACC1:MET transcriptional regulator MACC1 [Gene - OMIM - HGNC]
  • LOC129389763:MPRA-validated peak6423 silencer [Gene]
  • LOC129389764:MPRA-validated peak6424 silencer [Gene]
  • LOC129389765:MPRA-validated peak6425 silencer [Gene]
  • LOC129389766:MPRA-validated peak6433 silencer [Gene]
  • LOC129389767:MPRA-validated peak6435 silencer [Gene]
  • LOC129389768:MPRA-validated peak6439 silencer [Gene]
  • LOC129389769:MPRA-validated peak6442 silencer [Gene]
  • LOC129389770:MPRA-validated peak6444 silencer [Gene]
  • LOC129389771:MPRA-validated peak6446 silencer [Gene]
  • LOC129389772:MPRA-validated peak6447 silencer [Gene]
  • LOC129389773:MPRA-validated peak6451 silencer [Gene]
  • LOC129389774:MPRA-validated peak6452 silencer [Gene]
  • NFE2L3:NFE2 like bZIP transcription factor 3 [Gene - OMIM - HGNC]
  • LOC111365184:NFE2L2 motif-containing MPRA enhancer 39 [Gene]
  • LOC107126281:NUP98-HOXA11 recombination region [Gene]
  • LOC107126288:NUP98-HOXA13 recombination region [Gene]
  • LOC107197952:NUP98-HOXA9 recombination region [Gene]
  • LOC132089523:Neanderthal introgressed variant-containing enhancer experimental_98226 [Gene]
  • LOC126859956:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:20256832-20258031 [Gene]
  • LOC126859960:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:21050446-21051645 [Gene]
  • LOC126859965:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:23060419-23061618 [Gene]
  • LOC126859966:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr7:24168801-24170000 [Gene]
  • RAPGEF5:Rap guanine nucleotide exchange factor 5 [Gene - OMIM - HGNC]
  • SNX10-AS1:SNX10 antisense RNA 1 [Gene - HGNC]
  • STEAP1B:STEAP family member 1B [Gene - HGNC]
  • STEAP1B-AS1:STEAP1B antisense RNA 1 [Gene - HGNC]
  • LOC123924919:Sharpr-MPRA regulatory region 10260 [Gene]
  • LOC123956120:Sharpr-MPRA regulatory region 1131 [Gene]
  • LOC121175337:Sharpr-MPRA regulatory region 12520 [Gene]
  • LOC123956119:Sharpr-MPRA regulatory region 12991 [Gene]
  • LOC123924921:Sharpr-MPRA regulatory region 13058 [Gene]
  • LOC113743975:Sharpr-MPRA regulatory region 1382 [Gene]
  • LOC123956121:Sharpr-MPRA regulatory region 14722 [Gene]
  • LOC113748385:Sharpr-MPRA regulatory region 2106 [Gene]
  • LOC113748384:Sharpr-MPRA regulatory region 2148 [Gene]
  • LOC123924920:Sharpr-MPRA regulatory region 3197 [Gene]
  • LOC121175338:Sharpr-MPRA regulatory region 4449 [Gene]
  • LOC123924917:Sharpr-MPRA regulatory region 4516 [Gene]
  • LOC123924916:Sharpr-MPRA regulatory region 5184 [Gene]
  • LOC123924918:Sharpr-MPRA regulatory region 6228 [Gene]
  • LOC121175339:Sharpr-MPRA regulatory region 6231 [Gene]
  • LOC113748383:Sharpr-MPRA regulatory region 9537 [Gene]
  • SP4:Sp4 transcription factor [Gene - OMIM - HGNC]
  • SP8:Sp8 transcription factor [Gene - OMIM - HGNC]
  • TAX1BP1-AS1:TAX1BP1 antisense RNA 1 [Gene - HGNC]
  • TAX1BP1:Tax1 binding protein 1 [Gene - OMIM - HGNC]
  • LOC110120961:VISTA enhancer hs1007 [Gene]
  • LOC110120964:VISTA enhancer hs1019 [Gene]
  • LOC110120589:VISTA enhancer hs110 [Gene]
  • LOC110121006:VISTA enhancer hs1148 [Gene]
  • LOC110121034:VISTA enhancer hs1226 [Gene]
  • LOC110121058:VISTA enhancer hs1325 [Gene]
  • LOC110121115:VISTA enhancer hs1465 [Gene]
  • LOC110121156:VISTA enhancer hs1600 [Gene]
  • LOC110121185:VISTA enhancer hs1677 [Gene]
  • LOC110120650:VISTA enhancer hs294 [Gene]
  • LOC110120651:VISTA enhancer hs296 [Gene]
  • LOC110120719:VISTA enhancer hs629 [Gene]
  • LOC110120749:VISTA enhancer hs701 [Gene]
  • LOC110120765:VISTA enhancer hs769 [Gene]
  • LOC110120775:VISTA enhancer hs807 [Gene]
  • LOC110120786:VISTA enhancer hs844 [Gene]
  • CDCA7L:cell division cycle associated 7 like [Gene - OMIM - HGNC]
  • CBX3:chromobox 3 [Gene - OMIM - HGNC]
  • CCDC126:coiled-coil domain containing 126 [Gene - HGNC]
  • CYCS:cytochrome c, somatic [Gene - OMIM - HGNC]
  • DNAH11:dynein axonemal heavy chain 11 [Gene - OMIM - HGNC]
  • EVX1:even-skipped homeobox 1 [Gene - OMIM - HGNC]
  • FAM221A:family with sequence similarity 221 member A [Gene - HGNC]
  • GSDME:gasdermin E [Gene - OMIM - HGNC]
  • GIRGL:glutamine insufficiency regulator of glutaminase lncRNA [Gene - HGNC]
  • GPNMB:glycoprotein nmb [Gene - OMIM - HGNC]
  • HNRNPA2B1:heterogeneous nuclear ribonucleoprotein A2/B1 [Gene - OMIM - HGNC]
  • HOXA10:homeobox A10 [Gene - OMIM - HGNC]
  • HOXA11:homeobox A11 [Gene - OMIM - HGNC]
  • HOXA13:homeobox A13 [Gene - OMIM - HGNC]
  • HOXA1:homeobox A1 [Gene - OMIM - HGNC]
  • HOXA2:homeobox A2 [Gene - OMIM - HGNC]
  • HOXA3:homeobox A3 [Gene - OMIM - HGNC]
  • HOXA4:homeobox A4 [Gene - OMIM - HGNC]
  • HOXA5:homeobox A5 [Gene - OMIM - HGNC]
  • HOXA6:homeobox A6 [Gene - OMIM - HGNC]
  • HOXA7:homeobox A7 [Gene - OMIM - HGNC]
  • HOXA9:homeobox A9 [Gene - OMIM - HGNC]
  • HYCC1:hyccin PI4KA lipid kinase complex subunit 1 [Gene - OMIM - HGNC]
  • IGF2BP3:insulin like growth factor 2 mRNA binding protein 3 [Gene - OMIM - HGNC]
  • ITGB8:integrin subunit beta 8 [Gene - OMIM - HGNC]
  • IL6:interleukin 6 [Gene - OMIM - HGNC]
  • KLHL7:kelch like family member 7 [Gene - OMIM - HGNC]
  • LINC01162:long intergenic non-protein coding RNA 1162 [Gene - HGNC]
  • LINC02860:long intergenic non-protein coding RNA 2860 [Gene - HGNC]
  • LINC02981:long intergenic non-protein coding RNA 2981 [Gene - HGNC]
  • LINC03007:long intergenic non-protein coding RNA 3007 [Gene - HGNC]
  • LINC03095:long intergenic non-protein coding RNA 3095 [Gene - HGNC]
  • LOC128772305:melanoma risk locus-associated MPRA allelic enhancer 7:22097966 [Gene]
  • LOC128772306:melanoma risk locus-associated MPRA allelic enhancer 7:22117733 [Gene]
  • LOC128772307:melanoma risk locus-associated MPRA allelic enhancer 7:22118756 [Gene]
  • LOC128772308:melanoma risk locus-associated MPRA allelic enhancer 7:22119917 [Gene]
  • LOC128772309:melanoma risk locus-associated MPRA allelic enhancer 7:22121421 [Gene]
  • LOC128772310:melanoma risk locus-associated MPRA allelic enhancer 7:22123422 [Gene]
  • LOC128772311:melanoma risk locus-associated MPRA allelic enhancer 7:22141595 [Gene]
  • MIR1183:microRNA 1183 [Gene - HGNC]
  • MIR148A:microRNA 148a [Gene - OMIM - HGNC]
  • MIR196B:microRNA 196b [Gene - OMIM - HGNC]
  • MALSU1:mitochondrial assembly of ribosomal large subunit 1 [Gene - OMIM - HGNC]
  • NPVF:neuropeptide VF precursor [Gene - OMIM - HGNC]
  • NPY:neuropeptide Y [Gene - OMIM - HGNC]
  • NUP42:nucleoporin 42 [Gene - OMIM - HGNC]
  • OSBPL3:oxysterol binding protein like 3 [Gene - OMIM - HGNC]
  • PALS2:protein associated with LIN7 2, MAGUK p55 family member [Gene - OMIM - HGNC]
  • STK31:serine/threonine kinase 31 [Gene - OMIM - HGNC]
  • SNHG26:small nucleolar RNA host gene 26 [Gene - HGNC]
  • SNORD65C:small nucleolar RNA, C/D box 65C [Gene - HGNC]
  • SNORD93:small nucleolar RNA, C/D box 93 [Gene - HGNC]
  • SNX10:sorting nexin 10 [Gene - OMIM - HGNC]
  • SPMIP4:sperm microtubule inner protein 4 [Gene - OMIM - HGNC]
  • SKAP2:src kinase associated phosphoprotein 2 [Gene - OMIM - HGNC]
  • TSL:testis-expressed, seven-twelve, leukemia [Gene]
  • TRA2A:transformer 2 alpha homolog [Gene - OMIM - HGNC]
  • TOMM7:translocase of outer mitochondrial membrane 7 [Gene - OMIM - HGNC]
  • LOC101927769:uncharacterized LOC101927769 [Gene]
  • LOC401312:uncharacterized LOC401312 [Gene]
Variant type:
copy number loss
Cytogenetic location:
7p21.1-15.2
Genomic location:
Preferred name:
GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1
HGVS:
  • NC_000007.14:g.(?_20210912)_(27849400_?)del
  • NC_000007.12:g.(?_20217060)_(27855544_?)del
  • NC_000007.13:g.(?_20250535)_(27889019_?)del
Links:
dbVar: nssv583452; dbVar: nsv497403
Observations:
1

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000173872GeneDx
no assertion criteria provided
Pathogenic
(Nov 30, 2010) 		not providedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000173872.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023