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GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 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:
RCV000133858.6

Allele description [Variation Report for GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1]

GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1

Genes:
  • ALG10:ALG10 alpha-1,2-glucosyltransferase [Gene - OMIM - HGNC]
  • LOC130007562:ATAC-STARR-seq lymphoblastoid active region 6116 [Gene]
  • LOC130007570:ATAC-STARR-seq lymphoblastoid active region 6118 [Gene]
  • LOC130007571:ATAC-STARR-seq lymphoblastoid active region 6119 [Gene]
  • LOC130007572:ATAC-STARR-seq lymphoblastoid active region 6120 [Gene]
  • LOC130007573:ATAC-STARR-seq lymphoblastoid active region 6121 [Gene]
  • LOC130007574:ATAC-STARR-seq lymphoblastoid active region 6122 [Gene]
  • LOC130007575:ATAC-STARR-seq lymphoblastoid active region 6123 [Gene]
  • LOC130007576:ATAC-STARR-seq lymphoblastoid active region 6124 [Gene]
  • LOC130007577:ATAC-STARR-seq lymphoblastoid active region 6125 [Gene]
  • LOC130007579:ATAC-STARR-seq lymphoblastoid active region 6126 [Gene]
  • LOC130007580:ATAC-STARR-seq lymphoblastoid active region 6127 [Gene]
  • LOC130007581:ATAC-STARR-seq lymphoblastoid active region 6128 [Gene]
  • LOC130007587:ATAC-STARR-seq lymphoblastoid active region 6131 [Gene]
  • LOC130007588:ATAC-STARR-seq lymphoblastoid active region 6132 [Gene]
  • LOC130007589:ATAC-STARR-seq lymphoblastoid active region 6133 [Gene]
  • LOC130007590:ATAC-STARR-seq lymphoblastoid active region 6134 [Gene]
  • LOC130007591:ATAC-STARR-seq lymphoblastoid active region 6135 [Gene]
  • LOC130007592:ATAC-STARR-seq lymphoblastoid active region 6136 [Gene]
  • LOC130007593:ATAC-STARR-seq lymphoblastoid active region 6137 [Gene]
  • LOC130007594:ATAC-STARR-seq lymphoblastoid active region 6138 [Gene]
  • LOC130007595:ATAC-STARR-seq lymphoblastoid active region 6139 [Gene]
  • LOC130007596:ATAC-STARR-seq lymphoblastoid active region 6140 [Gene]
  • LOC130007597:ATAC-STARR-seq lymphoblastoid active region 6141 [Gene]
  • LOC130007598:ATAC-STARR-seq lymphoblastoid active region 6142 [Gene]
  • LOC130007600:ATAC-STARR-seq lymphoblastoid active region 6143 [Gene]
  • LOC130007601:ATAC-STARR-seq lymphoblastoid active region 6144 [Gene]
  • LOC130007604:ATAC-STARR-seq lymphoblastoid active region 6146 [Gene]
  • LOC130007606:ATAC-STARR-seq lymphoblastoid active region 6147 [Gene]
  • LOC130007607:ATAC-STARR-seq lymphoblastoid active region 6148 [Gene]
  • LOC130007608:ATAC-STARR-seq lymphoblastoid active region 6149 [Gene]
  • LOC130007610:ATAC-STARR-seq lymphoblastoid active region 6152 [Gene]
  • LOC130007611:ATAC-STARR-seq lymphoblastoid active region 6153 [Gene]
  • LOC130007614:ATAC-STARR-seq lymphoblastoid active region 6154 [Gene]
  • LOC130007615:ATAC-STARR-seq lymphoblastoid active region 6155 [Gene]
  • LOC130007618:ATAC-STARR-seq lymphoblastoid active region 6156 [Gene]
  • LOC130007621:ATAC-STARR-seq lymphoblastoid active region 6157 [Gene]
  • LOC130007623:ATAC-STARR-seq lymphoblastoid active region 6158 [Gene]
  • LOC130007624:ATAC-STARR-seq lymphoblastoid active region 6159 [Gene]
  • LOC130007626:ATAC-STARR-seq lymphoblastoid active region 6160 [Gene]
  • LOC130007627:ATAC-STARR-seq lymphoblastoid active region 6161 [Gene]
  • LOC130007628:ATAC-STARR-seq lymphoblastoid active region 6164 [Gene]
  • LOC130007629:ATAC-STARR-seq lymphoblastoid active region 6165 [Gene]
  • LOC130007630:ATAC-STARR-seq lymphoblastoid active region 6166 [Gene]
  • LOC130007631:ATAC-STARR-seq lymphoblastoid active region 6167 [Gene]
  • LOC130007632:ATAC-STARR-seq lymphoblastoid active region 6168 [Gene]
  • LOC130007636:ATAC-STARR-seq lymphoblastoid active region 6169 [Gene]
  • LOC130007638:ATAC-STARR-seq lymphoblastoid active region 6170 [Gene]
  • LOC130007639:ATAC-STARR-seq lymphoblastoid active region 6172 [Gene]
  • LOC130007641:ATAC-STARR-seq lymphoblastoid active region 6173 [Gene]
  • LOC130007643:ATAC-STARR-seq lymphoblastoid active region 6174 [Gene]
  • LOC130007645:ATAC-STARR-seq lymphoblastoid active region 6178 [Gene]
  • LOC130007647:ATAC-STARR-seq lymphoblastoid active region 6179 [Gene]
  • LOC130007650:ATAC-STARR-seq lymphoblastoid active region 6180 [Gene]
  • LOC130007653:ATAC-STARR-seq lymphoblastoid active region 6181 [Gene]
  • LOC130007654:ATAC-STARR-seq lymphoblastoid active region 6182 [Gene]
  • LOC130007655:ATAC-STARR-seq lymphoblastoid active region 6183 [Gene]
  • LOC130007656:ATAC-STARR-seq lymphoblastoid active region 6184 [Gene]
  • LOC130007657:ATAC-STARR-seq lymphoblastoid active region 6185 [Gene]
  • LOC130007658:ATAC-STARR-seq lymphoblastoid active region 6186 [Gene]
  • LOC130007659:ATAC-STARR-seq lymphoblastoid active region 6187 [Gene]
  • LOC130007660:ATAC-STARR-seq lymphoblastoid active region 6188 [Gene]
  • LOC130007661:ATAC-STARR-seq lymphoblastoid active region 6189 [Gene]
  • LOC130007563:ATAC-STARR-seq lymphoblastoid silent region 4295 [Gene]
  • LOC130007564:ATAC-STARR-seq lymphoblastoid silent region 4296 [Gene]
  • LOC130007565:ATAC-STARR-seq lymphoblastoid silent region 4297 [Gene]
  • LOC130007566:ATAC-STARR-seq lymphoblastoid silent region 4298 [Gene]
  • LOC130007567:ATAC-STARR-seq lymphoblastoid silent region 4299 [Gene]
  • LOC130007568:ATAC-STARR-seq lymphoblastoid silent region 4300 [Gene]
  • LOC130007569:ATAC-STARR-seq lymphoblastoid silent region 4301 [Gene]
  • LOC130007578:ATAC-STARR-seq lymphoblastoid silent region 4302 [Gene]
  • LOC130007582:ATAC-STARR-seq lymphoblastoid silent region 4303 [Gene]
  • LOC130007583:ATAC-STARR-seq lymphoblastoid silent region 4304 [Gene]
  • LOC130007584:ATAC-STARR-seq lymphoblastoid silent region 4305 [Gene]
  • LOC130007585:ATAC-STARR-seq lymphoblastoid silent region 4307 [Gene]
  • LOC130007586:ATAC-STARR-seq lymphoblastoid silent region 4308 [Gene]
  • LOC130007599:ATAC-STARR-seq lymphoblastoid silent region 4309 [Gene]
  • LOC130007602:ATAC-STARR-seq lymphoblastoid silent region 4310 [Gene]
  • LOC130007603:ATAC-STARR-seq lymphoblastoid silent region 4311 [Gene]
  • LOC130007605:ATAC-STARR-seq lymphoblastoid silent region 4312 [Gene]
  • LOC130007609:ATAC-STARR-seq lymphoblastoid silent region 4313 [Gene]
  • LOC130007612:ATAC-STARR-seq lymphoblastoid silent region 4315 [Gene]
  • LOC130007613:ATAC-STARR-seq lymphoblastoid silent region 4316 [Gene]
  • LOC130007616:ATAC-STARR-seq lymphoblastoid silent region 4317 [Gene]
  • LOC130007617:ATAC-STARR-seq lymphoblastoid silent region 4318 [Gene]
  • LOC130007619:ATAC-STARR-seq lymphoblastoid silent region 4319 [Gene]
  • LOC130007620:ATAC-STARR-seq lymphoblastoid silent region 4320 [Gene]
  • LOC130007622:ATAC-STARR-seq lymphoblastoid silent region 4321 [Gene]
  • LOC130007625:ATAC-STARR-seq lymphoblastoid silent region 4322 [Gene]
  • LOC130007633:ATAC-STARR-seq lymphoblastoid silent region 4323 [Gene]
  • LOC130007634:ATAC-STARR-seq lymphoblastoid silent region 4324 [Gene]
  • LOC130007635:ATAC-STARR-seq lymphoblastoid silent region 4325 [Gene]
  • LOC130007637:ATAC-STARR-seq lymphoblastoid silent region 4326 [Gene]
  • LOC130007640:ATAC-STARR-seq lymphoblastoid silent region 4328 [Gene]
  • LOC130007642:ATAC-STARR-seq lymphoblastoid silent region 4329 [Gene]
  • LOC130007644:ATAC-STARR-seq lymphoblastoid silent region 4330 [Gene]
  • LOC130007646:ATAC-STARR-seq lymphoblastoid silent region 4331 [Gene]
  • LOC130007648:ATAC-STARR-seq lymphoblastoid silent region 4332 [Gene]
  • LOC130007649:ATAC-STARR-seq lymphoblastoid silent region 4333 [Gene]
  • LOC130007651:ATAC-STARR-seq lymphoblastoid silent region 4334 [Gene]
  • LOC130007652:ATAC-STARR-seq lymphoblastoid silent region 4335 [Gene]
  • LOC130007662:ATAC-STARR-seq lymphoblastoid silent region 4338 [Gene]
  • LOC130007663:ATAC-STARR-seq lymphoblastoid silent region 4339 [Gene]
  • LOC130007664:ATAC-STARR-seq lymphoblastoid silent region 4340 [Gene]
  • LOC130007665:ATAC-STARR-seq lymphoblastoid silent region 4341 [Gene]
  • BICD1:BICD cargo adaptor 1 [Gene - OMIM - HGNC]
  • BICD1-AS1:BICD1 antisense RNA 1 [Gene - HGNC]
  • BMAL2-AS1:BMAL2 antisense RNA 1 [Gene - HGNC]
  • LOC126861483:BRD4-independent group 4 enhancer GRCh37_chr12:26512284-26513483 [Gene]
  • LOC126861484:BRD4-independent group 4 enhancer GRCh37_chr12:26800684-26801883 [Gene]
  • LOC126861488:BRD4-independent group 4 enhancer GRCh37_chr12:28175972-28177171 [Gene]
  • LOC126861489:BRD4-independent group 4 enhancer GRCh37_chr12:28283226-28284425 [Gene]
  • LOC126861490:BRD4-independent group 4 enhancer GRCh37_chr12:29091715-29092914 [Gene]
  • LOC126861493:BRD4-independent group 4 enhancer GRCh37_chr12:30989687-30990886 [Gene]
  • LOC126861497:BRD4-independent group 4 enhancer GRCh37_chr12:32939152-32940351 [Gene]
  • LOC126861485:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:27627037-27628236 [Gene]
  • LOC126861486:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:27701742-27702941 [Gene]
  • LOC126861487:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:27974511-27975710 [Gene]
  • LOC126861491:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:29194325-29195524 [Gene]
  • LOC126861492:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:29885622-29886821 [Gene]
  • LOC126861498:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:33079663-33080862 [Gene]
  • LOC116268437:CRISPRi-validated cis-regulatory element chr12.1007 [Gene]
  • LOC116268436:CRISPRi-validated cis-regulatory element chr12.953 [Gene]
  • DDX11-AS1:DDX11 antisense RNA 1 [Gene - HGNC]
  • DDX11:DEAD/H-box helicase 11 [Gene - OMIM - HGNC]
  • DENND5B:DENN domain containing 5B [Gene - OMIM - HGNC]
  • DENND5B-AS1:DENND5B antisense RNA 1 [Gene - HGNC]
  • ERGIC2:ERGIC and golgi 2 [Gene - OMIM - HGNC]
  • FGFR1OP2:FGFR1 oncogene partner 2 [Gene - OMIM - HGNC]
  • FGD4:FYVE, RhoGEF and PH domain containing 4 [Gene - OMIM - HGNC]
  • H3-5:H3.5 histone [Gene - OMIM - HGNC]
  • ITPR2-AS1:ITPR2 and SSPN antisense RNA 1 [Gene - HGNC]
  • MANSC4:MANSC domain containing 4 [Gene - HGNC]
  • LOC126861481:MED14-independent group 3 enhancer GRCh37_chr12:25863726-25864925 [Gene]
  • LOC126861482:MED14-independent group 3 enhancer GRCh37_chr12:26398995-26400194 [Gene]
  • LOC126861494:MED14-independent group 3 enhancer GRCh37_chr12:31886154-31887353 [Gene]
  • LOC126861495:MED14-independent group 3 enhancer GRCh37_chr12:32401528-32402727 [Gene]
  • LOC126861496:MED14-independent group 3 enhancer GRCh37_chr12:32827128-32828327 [Gene]
  • LOC126861500:MED14-independent group 3 enhancer GRCh37_chr12:34201439-34202638 [Gene]
  • LOC129390416:MPRA-validated peak1624 silencer [Gene]
  • LOC129390417:MPRA-validated peak1625 silencer [Gene]
  • LOC129390418:MPRA-validated peak1626 silencer [Gene]
  • LOC129390419:MPRA-validated peak1632 silencer [Gene]
  • LOC129390420:MPRA-validated peak1633 silencer [Gene]
  • LOC129390421:MPRA-validated peak1634 silencer [Gene]
  • LOC129390422:MPRA-validated peak1636 silencer [Gene]
  • LOC129390423:MPRA-validated peak1637 silencer [Gene]
  • LOC129390424:MPRA-validated peak1639 silencer [Gene]
  • LOC129390425:MPRA-validated peak1642 silencer [Gene]
  • LOC129390426:MPRA-validated peak1651 silencer [Gene]
  • LOC129390427:MPRA-validated peak1655 silencer [Gene]
  • LOC129390428:MPRA-validated peak1659 silencer [Gene]
  • LOC129390429:MPRA-validated peak1660 silencer [Gene]
  • LOC129390430:MPRA-validated peak1661 silencer [Gene]
  • LOC129390431:MPRA-validated peak1664 silencer [Gene]
  • LOC129390432:MPRA-validated peak1665 silencer [Gene]
  • LOC129390433:MPRA-validated peak1668 silencer [Gene]
  • LOC129390434:MPRA-validated peak1670 silencer [Gene]
  • LOC111501779:NFE2L2 motif-containing MPRA enhancer 301/302 [Gene]
  • LOC132090080:Neanderthal introgressed variant-containing enhancer experimental_26717 [Gene]
  • LOC132090081:Neanderthal introgressed variant-containing enhancer experimental_26866 [Gene]
  • LOC132090082:Neanderthal introgressed variant-containing enhancer experimental_26902 [Gene]
  • LOC132090083:Neanderthal introgressed variant-containing enhancer experimental_26952 [Gene]
  • LOC132090084:Neanderthal introgressed variant-containing enhancer experimental_26967 [Gene]
  • LOC132090085:Neanderthal introgressed variant-containing enhancer experimental_27003 [Gene]
  • LOC132090086:Neanderthal introgressed variant-containing enhancer experimental_27027 [Gene]
  • LOC132090087:Neanderthal introgressed variant-containing enhancer experimental_27082 [Gene]
  • LOC132090088:Neanderthal introgressed variant-containing enhancer experimental_27127 [Gene]
  • LOC132090089:Neanderthal introgressed variant-containing enhancer experimental_27159 [Gene]
  • LOC132090090:Neanderthal introgressed variant-containing enhancer experimental_27196 [Gene]
  • LOC132090091:Neanderthal introgressed variant-containing enhancer experimental_27213 [Gene]
  • LOC132090092:Neanderthal introgressed variant-containing enhancer experimental_27218 [Gene]
  • LOC132090843:Neanderthal introgressed variant-containing enhancer experimental_27297 [Gene]
  • LOC132090093:Neanderthal introgressed variant-containing enhancer experimental_27323 [Gene]
  • LOC132090094:Neanderthal introgressed variant-containing enhancer experimental_27354 [Gene]
  • LOC132090095:Neanderthal introgressed variant-containing enhancer experimental_27355 [Gene]
  • LOC132090096:Neanderthal introgressed variant-containing enhancer experimental_27393 [Gene]
  • LOC132090097:Neanderthal introgressed variant-containing enhancer experimental_27419 [Gene]
  • LOC132090098:Neanderthal introgressed variant-containing enhancer experimental_27646 [Gene]
  • LOC132090099:Neanderthal introgressed variant-containing enhancer experimental_27770 [Gene]
  • LOC132090100:Neanderthal introgressed variant-containing enhancer experimental_28029 [Gene]
  • LOC132090844:Neanderthal introgressed variant-containing enhancer experimental_28085 [Gene]
  • LOC132090845:Neanderthal introgressed variant-containing enhancer experimental_28118 [Gene]
  • LOC132090101:Neanderthal introgressed variant-containing enhancer experimental_28131 [Gene]
  • LOC132090102:Neanderthal introgressed variant-containing enhancer experimental_28199 [Gene]
  • LOC132090103:Neanderthal introgressed variant-containing enhancer experimental_28233 [Gene]
  • LOC132090104:Neanderthal introgressed variant-containing enhancer experimental_28311 [Gene]
  • LOC132211107:Neanderthal introgressed variant-containing enhancers experimental_27720 and experimental_27723 [Gene]
  • OVCH1-AS1:OVCH1 antisense RNA 1 [Gene - HGNC]
  • LOC112163550:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:31901554-31902753 [Gene]
  • LOC126861499:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:33333175-33334374 [Gene]
  • PPFIBP1:PPFIA binding protein 1 [Gene - OMIM - HGNC]
  • REP15:RAB15 effector protein [Gene - OMIM - HGNC]
  • RASSF8-AS1:RASSF8 antisense RNA 1 [Gene - HGNC]
  • RASSF8:Ras association domain family member 8 [Gene - OMIM - HGNC]
  • SINHCAF:SIN3-HDAC complex associated factor [Gene - OMIM - HGNC]
  • LOC124629340:Sharpr-MPRA regulatory region 11157 [Gene]
  • LOC124629337:Sharpr-MPRA regulatory region 14756 [Gene]
  • LOC124629336:Sharpr-MPRA regulatory region 14818 [Gene]
  • LOC112163551:Sharpr-MPRA regulatory region 3097 [Gene]
  • LOC124629338:Sharpr-MPRA regulatory region 4473 [Gene]
  • LOC121832829:Sharpr-MPRA regulatory region 6326 [Gene]
  • LOC124629339:Sharpr-MPRA regulatory region 7044 [Gene]
  • LOC121832830:Sharpr-MPRA regulatory region 8759 [Gene]
  • LOC121466693:Sharpr-MPRA regulatory region 8897 [Gene]
  • AMN1:antagonist of mitotic exit network 1 homolog [Gene - OMIM - HGNC]
  • BMAL2:basic helix-loop-helix ARNT like 2 [Gene - OMIM - HGNC]
  • BHLHE41:basic helix-loop-helix family member e41 [Gene - OMIM - HGNC]
  • CAPRIN2:caprin family member 2 [Gene - OMIM - HGNC]
  • C12orf71:chromosome 12 open reading frame 71 [Gene - HGNC]
  • CCDC91:coiled-coil domain containing 91 [Gene - OMIM - HGNC]
  • DNM1L:dynamin 1 like [Gene - OMIM - HGNC]
  • ETFBKMT:electron transfer flavoprotein subunit beta lysine methyltransferase [Gene - OMIM - HGNC]
  • FAR2:fatty acyl-CoA reductase 2 [Gene - OMIM - HGNC]
  • IPO8:importin 8 [Gene - OMIM - HGNC]
  • ITPR2:inositol 1,4,5-trisphosphate receptor type 2 [Gene - OMIM - HGNC]
  • INTS13:integrator complex subunit 13 [Gene - OMIM - HGNC]
  • KLHL42:kelch like family member 42 [Gene - OMIM - HGNC]
  • LMNTD1:lamin tail domain containing 1 [Gene - OMIM - HGNC]
  • LINC02386:long intergenic non-protein coding RNA 2386 [Gene - HGNC]
  • LINC02387:long intergenic non-protein coding RNA 2387 [Gene - HGNC]
  • LINC02422:long intergenic non-protein coding RNA 2422 [Gene - HGNC]
  • LINC00941:long intergenic non-protein coding RNA 941 [Gene - OMIM - HGNC]
  • MED21:mediator complex subunit 21 [Gene - OMIM - HGNC]
  • MIR4302:microRNA 4302 [Gene - HGNC]
  • MRPS35:mitochondrial ribosomal protein S35 [Gene - OMIM - HGNC]
  • LOC108281176:nontranscribed chromatin-defined enhancer upstream of C12orf71 [Gene]
  • OVCH1:ovochymase 1 [Gene - HGNC]
  • PTHLH:parathyroid hormone like hormone [Gene - OMIM - HGNC]
  • PKP2:plakophilin 2 [Gene - OMIM - HGNC]
  • RESF1:retroelement silencing factor 1 [Gene - OMIM - HGNC]
  • SSPN:sarcospan [Gene - OMIM - HGNC]
  • STK38L:serine/threonine kinase 38 like [Gene - OMIM - HGNC]
  • SMCO2:single-pass membrane protein with coiled-coil domains 2 [Gene - HGNC]
  • SYT10:synaptotagmin 10 [Gene - HGNC]
  • TSPAN11:tetraspanin 11 [Gene - HGNC]
  • TM7SF3:transmembrane 7 superfamily member 3 [Gene - OMIM - HGNC]
  • TMTC1:transmembrane O-mannosyltransferase targeting cadherins 1 [Gene - OMIM - HGNC]
  • YARS2:tyrosyl-tRNA synthetase 2 [Gene - OMIM - HGNC]
  • LOC100506606:uncharacterized LOC100506606 [Gene]
  • LOC105369704:uncharacterized LOC105369704 [Gene]
  • LOC645485:uncharacterized LOC645485 [Gene]
  • LOC729291:uncharacterized LOC729291 [Gene]
  • FLJ13224:uncharacterized LOC79857 [Gene]
Variant type:
copy number loss
Cytogenetic location:
12p12.1-11.1
Genomic location:
Preferred name:
GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1
HGVS:
  • NC_000012.12:g.(?_25263833)_(34064528_?)del
  • NC_000012.10:g.(?_25308034)_(34108730_?)del
  • NC_000012.11:g.(?_25416767)_(34217463_?)del
Links:
dbVar: nssv576871; dbVar: nsv491940
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
SCV000173275ISCA site 4

See additional submitters

no assertion criteria provided
Pathogenic
(Jan 30, 2010) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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 4, SCV000173275.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024