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GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 10, 2012
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:
RCV000142787.5

Allele description [Variation Report for GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1]

GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1

Genes:
  • HMCES:5-hydroxymethylcytosine binding, ES cell specific [Gene - OMIM - HGNC]
  • ACAD9-DT:ACAD9 divergent transcript [Gene - HGNC]
  • ALG1L2:ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase like 2 [Gene - HGNC]
  • LOC129937490:ATAC-STARR-seq lymphoblastoid active region 20458 [Gene]
  • LOC129937494:ATAC-STARR-seq lymphoblastoid active region 20459 [Gene]
  • LOC129937495:ATAC-STARR-seq lymphoblastoid active region 20460 [Gene]
  • LOC129937496:ATAC-STARR-seq lymphoblastoid active region 20463 [Gene]
  • LOC129937497:ATAC-STARR-seq lymphoblastoid active region 20464 [Gene]
  • LOC129937498:ATAC-STARR-seq lymphoblastoid active region 20468 [Gene]
  • LOC129937499:ATAC-STARR-seq lymphoblastoid active region 20469 [Gene]
  • LOC129937500:ATAC-STARR-seq lymphoblastoid active region 20470 [Gene]
  • LOC129937501:ATAC-STARR-seq lymphoblastoid active region 20471 [Gene]
  • LOC129937502:ATAC-STARR-seq lymphoblastoid active region 20472 [Gene]
  • LOC129937503:ATAC-STARR-seq lymphoblastoid active region 20473 [Gene]
  • LOC129937505:ATAC-STARR-seq lymphoblastoid active region 20475 [Gene]
  • LOC129937509:ATAC-STARR-seq lymphoblastoid active region 20476 [Gene]
  • LOC129937511:ATAC-STARR-seq lymphoblastoid active region 20477 [Gene]
  • LOC129937513:ATAC-STARR-seq lymphoblastoid active region 20478 [Gene]
  • LOC129937514:ATAC-STARR-seq lymphoblastoid active region 20479 [Gene]
  • LOC129937515:ATAC-STARR-seq lymphoblastoid active region 20482 [Gene]
  • LOC129937516:ATAC-STARR-seq lymphoblastoid active region 20483 [Gene]
  • LOC129937519:ATAC-STARR-seq lymphoblastoid active region 20484 [Gene]
  • LOC129937520:ATAC-STARR-seq lymphoblastoid active region 20487 [Gene]
  • LOC129937522:ATAC-STARR-seq lymphoblastoid active region 20488 [Gene]
  • LOC129937523:ATAC-STARR-seq lymphoblastoid active region 20489 [Gene]
  • LOC129937524:ATAC-STARR-seq lymphoblastoid active region 20490 [Gene]
  • LOC129937525:ATAC-STARR-seq lymphoblastoid active region 20493 [Gene]
  • LOC129937526:ATAC-STARR-seq lymphoblastoid active region 20494 [Gene]
  • LOC129937527:ATAC-STARR-seq lymphoblastoid active region 20495 [Gene]
  • LOC129937528:ATAC-STARR-seq lymphoblastoid active region 20496 [Gene]
  • LOC129937532:ATAC-STARR-seq lymphoblastoid active region 20502 [Gene]
  • LOC129937535:ATAC-STARR-seq lymphoblastoid active region 20503 [Gene]
  • LOC129937536:ATAC-STARR-seq lymphoblastoid active region 20504 [Gene]
  • LOC129937537:ATAC-STARR-seq lymphoblastoid active region 20505 [Gene]
  • LOC129937538:ATAC-STARR-seq lymphoblastoid active region 20506 [Gene]
  • LOC129937539:ATAC-STARR-seq lymphoblastoid active region 20507 [Gene]
  • LOC129937542:ATAC-STARR-seq lymphoblastoid active region 20508 [Gene]
  • LOC129937543:ATAC-STARR-seq lymphoblastoid active region 20509 [Gene]
  • LOC129937547:ATAC-STARR-seq lymphoblastoid active region 20510 [Gene]
  • LOC129937548:ATAC-STARR-seq lymphoblastoid active region 20511 [Gene]
  • LOC129937550:ATAC-STARR-seq lymphoblastoid active region 20512 [Gene]
  • LOC129937551:ATAC-STARR-seq lymphoblastoid active region 20513 [Gene]
  • LOC129937552:ATAC-STARR-seq lymphoblastoid active region 20514 [Gene]
  • LOC129937553:ATAC-STARR-seq lymphoblastoid active region 20515 [Gene]
  • LOC129937554:ATAC-STARR-seq lymphoblastoid active region 20516 [Gene]
  • LOC129937555:ATAC-STARR-seq lymphoblastoid active region 20517 [Gene]
  • LOC129937558:ATAC-STARR-seq lymphoblastoid active region 20518 [Gene]
  • LOC129937560:ATAC-STARR-seq lymphoblastoid active region 20519 [Gene]
  • LOC129937561:ATAC-STARR-seq lymphoblastoid active region 20520 [Gene]
  • LOC129937562:ATAC-STARR-seq lymphoblastoid active region 20521 [Gene]
  • LOC129937565:ATAC-STARR-seq lymphoblastoid active region 20522 [Gene]
  • LOC129937567:ATAC-STARR-seq lymphoblastoid active region 20523 [Gene]
  • LOC129937569:ATAC-STARR-seq lymphoblastoid active region 20524 [Gene]
  • LOC129937570:ATAC-STARR-seq lymphoblastoid active region 20525 [Gene]
  • LOC129937572:ATAC-STARR-seq lymphoblastoid active region 20526 [Gene]
  • LOC129937574:ATAC-STARR-seq lymphoblastoid active region 20527 [Gene]
  • LOC129937575:ATAC-STARR-seq lymphoblastoid active region 20528 [Gene]
  • LOC129937576:ATAC-STARR-seq lymphoblastoid active region 20529 [Gene]
  • LOC129937577:ATAC-STARR-seq lymphoblastoid active region 20532 [Gene]
  • LOC129937579:ATAC-STARR-seq lymphoblastoid active region 20534 [Gene]
  • LOC129937580:ATAC-STARR-seq lymphoblastoid active region 20536 [Gene]
  • LOC129937585:ATAC-STARR-seq lymphoblastoid active region 20539 [Gene]
  • LOC129937588:ATAC-STARR-seq lymphoblastoid active region 20540 [Gene]
  • LOC129937589:ATAC-STARR-seq lymphoblastoid active region 20541 [Gene]
  • LOC129937590:ATAC-STARR-seq lymphoblastoid active region 20542 [Gene]
  • LOC129937591:ATAC-STARR-seq lymphoblastoid active region 20543 [Gene]
  • LOC129937593:ATAC-STARR-seq lymphoblastoid active region 20544 [Gene]
  • LOC129937594:ATAC-STARR-seq lymphoblastoid active region 20545 [Gene]
  • LOC129937595:ATAC-STARR-seq lymphoblastoid active region 20546 [Gene]
  • LOC129937596:ATAC-STARR-seq lymphoblastoid active region 20547 [Gene]
  • LOC129937597:ATAC-STARR-seq lymphoblastoid active region 20548 [Gene]
  • LOC129937598:ATAC-STARR-seq lymphoblastoid active region 20549 [Gene]
  • LOC129937599:ATAC-STARR-seq lymphoblastoid active region 20550 [Gene]
  • LOC129937488:ATAC-STARR-seq lymphoblastoid silent region 14692 [Gene]
  • LOC129937489:ATAC-STARR-seq lymphoblastoid silent region 14693 [Gene]
  • LOC129937491:ATAC-STARR-seq lymphoblastoid silent region 14694 [Gene]
  • LOC129937492:ATAC-STARR-seq lymphoblastoid silent region 14695 [Gene]
  • LOC129937493:ATAC-STARR-seq lymphoblastoid silent region 14696 [Gene]
  • LOC129937504:ATAC-STARR-seq lymphoblastoid silent region 14697 [Gene]
  • LOC129937506:ATAC-STARR-seq lymphoblastoid silent region 14699 [Gene]
  • LOC129937507:ATAC-STARR-seq lymphoblastoid silent region 14700 [Gene]
  • LOC129937508:ATAC-STARR-seq lymphoblastoid silent region 14701 [Gene]
  • LOC129937510:ATAC-STARR-seq lymphoblastoid silent region 14702 [Gene]
  • LOC129937512:ATAC-STARR-seq lymphoblastoid silent region 14703 [Gene]
  • LOC129937517:ATAC-STARR-seq lymphoblastoid silent region 14707 [Gene]
  • LOC129937518:ATAC-STARR-seq lymphoblastoid silent region 14708 [Gene]
  • LOC129937521:ATAC-STARR-seq lymphoblastoid silent region 14709 [Gene]
  • LOC129937529:ATAC-STARR-seq lymphoblastoid silent region 14712 [Gene]
  • LOC129937530:ATAC-STARR-seq lymphoblastoid silent region 14714 [Gene]
  • LOC129937531:ATAC-STARR-seq lymphoblastoid silent region 14716 [Gene]
  • LOC129937533:ATAC-STARR-seq lymphoblastoid silent region 14717 [Gene]
  • LOC129937534:ATAC-STARR-seq lymphoblastoid silent region 14718 [Gene]
  • LOC129937540:ATAC-STARR-seq lymphoblastoid silent region 14719 [Gene]
  • LOC129937541:ATAC-STARR-seq lymphoblastoid silent region 14720 [Gene]
  • LOC129937544:ATAC-STARR-seq lymphoblastoid silent region 14721 [Gene]
  • LOC129937545:ATAC-STARR-seq lymphoblastoid silent region 14722 [Gene]
  • LOC129937546:ATAC-STARR-seq lymphoblastoid silent region 14723 [Gene]
  • LOC129937549:ATAC-STARR-seq lymphoblastoid silent region 14724 [Gene]
  • LOC129937556:ATAC-STARR-seq lymphoblastoid silent region 14726 [Gene]
  • LOC129937557:ATAC-STARR-seq lymphoblastoid silent region 14728 [Gene]
  • LOC129937559:ATAC-STARR-seq lymphoblastoid silent region 14730 [Gene]
  • LOC129937563:ATAC-STARR-seq lymphoblastoid silent region 14731 [Gene]
  • LOC129937564:ATAC-STARR-seq lymphoblastoid silent region 14732 [Gene]
  • LOC129937566:ATAC-STARR-seq lymphoblastoid silent region 14733 [Gene]
  • LOC129937568:ATAC-STARR-seq lymphoblastoid silent region 14734 [Gene]
  • LOC129937571:ATAC-STARR-seq lymphoblastoid silent region 14735 [Gene]
  • LOC129937573:ATAC-STARR-seq lymphoblastoid silent region 14736 [Gene]
  • LOC129937578:ATAC-STARR-seq lymphoblastoid silent region 14738 [Gene]
  • LOC129937581:ATAC-STARR-seq lymphoblastoid silent region 14739 [Gene]
  • LOC129937582:ATAC-STARR-seq lymphoblastoid silent region 14740 [Gene]
  • LOC129937583:ATAC-STARR-seq lymphoblastoid silent region 14741 [Gene]
  • LOC129937584:ATAC-STARR-seq lymphoblastoid silent region 14742 [Gene]
  • LOC129937586:ATAC-STARR-seq lymphoblastoid silent region 14743 [Gene]
  • LOC129937587:ATAC-STARR-seq lymphoblastoid silent region 14744 [Gene]
  • LOC129937592:ATAC-STARR-seq lymphoblastoid silent region 14745 [Gene]
  • ATP2C1:ATPase secretory pathway Ca2+ transporting 1 [Gene - OMIM - HGNC]
  • BFSP2-AS1:BFSP2 antisense RNA 1 [Gene - HGNC]
  • LOC126806804:BRD4-independent group 4 enhancer GRCh37_chr3:127472805-127474004 [Gene]
  • LOC126806807:BRD4-independent group 4 enhancer GRCh37_chr3:128620937-128622136 [Gene]
  • LOC126806814:BRD4-independent group 4 enhancer GRCh37_chr3:132337002-132338201 [Gene]
  • LOC126806816:BRD4-independent group 4 enhancer GRCh37_chr3:132996224-132997423 [Gene]
  • CNBP:CCHC-type zinc finger nucleic acid binding protein [Gene - OMIM - HGNC]
  • LOC126806808:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:128705779-128706978 [Gene]
  • LOC126806810:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:129213542-129214741 [Gene]
  • LOC126806811:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:129513146-129514345 [Gene]
  • LOC126806812:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:130126750-130127949 [Gene]
  • COPG1:COPI coat complex subunit gamma 1 [Gene - OMIM - HGNC]
  • LOC117038769:CRISPRi-FlowFISH-validated H1-10 regulatory element 1 [Gene]
  • LOC117038771:CRISPRi-FlowFISH-validated H1-10 regulatory element 2 [Gene]
  • LOC117038773:CRISPRi-FlowFISH-validated H1-10 regulatory element 3 [Gene]
  • LOC117038774:CRISPRi-FlowFISH-validated H1-10 regulatory element 4 [Gene]
  • LOC117011629:CRISPRi-FlowFISH-validated RPN1 regulatory element 1 [Gene]
  • LOC117038770:CRISPRi-FlowFISH-validated RPN1 regulatory element 2 [Gene]
  • LOC117038772:CRISPRi-FlowFISH-validated RPN1 regulatory element 3 [Gene]
  • LOC115995518:CRISPRi-validated cis-regulatory element chr3.3676 [Gene]
  • LOC115995519:CRISPRi-validated cis-regulatory element chr3.3677 [Gene]
  • LOC115995520:CRISPRi-validated cis-regulatory element chr3.3678 [Gene]
  • LOC115995521:CRISPRi-validated cis-regulatory element chr3.3679 [Gene]
  • DNAJB8-AS1:DNAJB8 antisense RNA 1 [Gene - HGNC]
  • DNAJB8:DnaJ heat shock protein family (Hsp40) member B8 [Gene - OMIM - HGNC]
  • DNAJC13:DnaJ heat shock protein family (Hsp40) member C13 [Gene - OMIM - HGNC]
  • EFCC1:EF-hand and coiled-coil domain containing 1 [Gene - HGNC]
  • EFCAB12:EF-hand calcium binding domain 12 [Gene - HGNC]
  • GATA2:GATA binding protein 2 [Gene - OMIM - HGNC]
  • GATA2-AS1:GATA2 antisense RNA 1 [Gene - HGNC]
  • H1-10-AS1:H1-10 antisense RNA 1 [Gene - HGNC]
  • H1-10:H1.10 linker histone [Gene - OMIM - HGNC]
  • H1-8:H1.8 linker histone [Gene - HGNC]
  • ISY1:ISY1 splicing factor homolog [Gene - OMIM - HGNC]
  • ISY1-RAB43:ISY1-RAB43 readthrough [Gene - HGNC]
  • LOC126806805:MED14-independent group 3 enhancer GRCh37_chr3:127536190-127537389 [Gene]
  • LOC126806806:MED14-independent group 3 enhancer GRCh37_chr3:128223035-128224234 [Gene]
  • LOC126806813:MED14-independent group 3 enhancer GRCh37_chr3:131735283-131736482 [Gene]
  • LOC108192211:MGLL intron CAGE-defined high expression enhancer [Gene]
  • LOC129389131:MPRA-validated peak4821 silencer [Gene]
  • LOC129389132:MPRA-validated peak4823 silencer [Gene]
  • LOC129389133:MPRA-validated peak4825 silencer [Gene]
  • LOC129389134:MPRA-validated peak4826 silencer [Gene]
  • LOC129389135:MPRA-validated peak4828 silencer [Gene]
  • LOC129389136:MPRA-validated peak4829 silencer [Gene]
  • LOC129389137:MPRA-validated peak4833 silencer [Gene]
  • LOC129389138:MPRA-validated peak4836 silencer [Gene]
  • LOC111556160:NFE2L2 motif-containing MPRA enhancer 136 [Gene]
  • NEK11:NIMA related kinase 11 [Gene - OMIM - HGNC]
  • NPHP3-AS1:NPHP3 antisense RNA 1 [Gene - HGNC]
  • NPHP3-ACAD11:NPHP3-ACAD11 readthrough (NMD candidate) [Gene - HGNC]
  • NUDT16-DT:NUDT16 divergent transcript [Gene - HGNC]
  • LOC132088864:Neanderthal introgressed variant-containing enhancer experimental_64587 [Gene]
  • LOC132088865:Neanderthal introgressed variant-containing enhancer experimental_64660 [Gene]
  • LOC132088866:Neanderthal introgressed variant-containing enhancer experimental_64751 [Gene]
  • LOC123038177:OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:128287100-128287778 [Gene]
  • LOC126806809:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:129107257-129108456 [Gene]
  • LOC126806815:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:132348758-132349957 [Gene]
  • RAB43:RAB43, member RAS oncogene family [Gene - HGNC]
  • RAB7A:RAB7A, member RAS oncogene family [Gene - OMIM - HGNC]
  • RUVBL1-AS1:RUVBL1 antisense RNA 1 [Gene - HGNC]
  • RUVBL1:RuvB like AAA ATPase 1 [Gene - OMIM - HGNC]
  • SEC61A1:SEC61 translocon subunit alpha 1 [Gene - OMIM - HGNC]
  • LOC123038176:Sharpr-MPRA regulatory region 10596 [Gene]
  • LOC121048709:Sharpr-MPRA regulatory region 10640 [Gene]
  • LOC112872304:Sharpr-MPRA regulatory region 11052 [Gene]
  • LOC123038172:Sharpr-MPRA regulatory region 11416 [Gene]
  • LOC112872302:Sharpr-MPRA regulatory region 12201 [Gene]
  • LOC112903836:Sharpr-MPRA regulatory region 13907 [Gene]
  • LOC112872303:Sharpr-MPRA regulatory region 14456 [Gene]
  • LOC112872301:Sharpr-MPRA regulatory region 1469 [Gene]
  • LOC123038183:Sharpr-MPRA regulatory region 15178 [Gene]
  • LOC123038179:Sharpr-MPRA regulatory region 2951 [Gene]
  • LOC123038174:Sharpr-MPRA regulatory region 3031 [Gene]
  • LOC123038171:Sharpr-MPRA regulatory region 3038 [Gene]
  • LOC112872298:Sharpr-MPRA regulatory region 3129 [Gene]
  • LOC121045485:Sharpr-MPRA regulatory region 5176 [Gene]
  • LOC123038180:Sharpr-MPRA regulatory region 6157 [Gene]
  • LOC112872299:Sharpr-MPRA regulatory region 6458 [Gene]
  • LOC123038182:Sharpr-MPRA regulatory region 7150 [Gene]
  • LOC123038178:Sharpr-MPRA regulatory region 8233 [Gene]
  • LOC123038184:Sharpr-MPRA regulatory region 8682 [Gene]
  • LOC112872300:Sharpr-MPRA regulatory region 8693 [Gene]
  • LOC123038173:Sharpr-MPRA regulatory region 8761 [Gene]
  • LOC123038181:Sharpr-MPRA regulatory region 9069 [Gene]
  • LOC112903835:Sharpr-MPRA regulatory region 9074 [Gene]
  • LOC123038175:Sharpr-MPRA regulatory regions 13692 and 14760 [Gene]
  • LOC121045486:Sharpr-MPRA regulatory regions 9818 and 11773 [Gene]
  • TMCC1-DT:TMCC1 divergent transcript [Gene - HGNC]
  • TMEM108-AS1:TMEM108 antisense RNA 1 [Gene - HGNC]
  • ACP3:acid phosphatase 3 [Gene - OMIM - HGNC]
  • ACAD11:acyl-CoA dehydrogenase family member 11 [Gene - OMIM - HGNC]
  • ACAD9:acyl-CoA dehydrogenase family member 9 [Gene - OMIM - HGNC]
  • ABTB1:ankyrin repeat and BTB domain containing 1 [Gene - OMIM - HGNC]
  • ASTE1:asteroid homolog 1 [Gene - OMIM - HGNC]
  • ACKR4:atypical chemokine receptor 4 [Gene - OMIM - HGNC]
  • BFSP2:beaded filament structural protein 2 [Gene - OMIM - HGNC]
  • CFAP92:cilia and flagella associated protein 92 (putative) [Gene - HGNC]
  • COL6A5:collagen type VI alpha 5 chain [Gene - OMIM - HGNC]
  • COL6A6:collagen type VI alpha 6 chain [Gene - OMIM - HGNC]
  • CPNE4:copine 4 [Gene - OMIM - HGNC]
  • EEFSEC:eukaryotic elongation factor, selenocysteine-tRNA specific [Gene - OMIM - HGNC]
  • GP9:glycoprotein IX platelet [Gene - OMIM - HGNC]
  • IFT122:intraflagellar transport 122 [Gene - OMIM - HGNC]
  • KBTBD12:kelch repeat and BTB domain containing 12 [Gene - HGNC]
  • LINC01565:long intergenic non-protein coding RNA 1565 [Gene - OMIM - HGNC]
  • LINC02014:long intergenic non-protein coding RNA 2014 [Gene - HGNC]
  • LINC02021:long intergenic non-protein coding RNA 2021 [Gene - HGNC]
  • MBD4:methyl-CpG binding domain 4, DNA glycosylase [Gene - OMIM - HGNC]
  • MIR12124:microRNA 12124 [Gene - HGNC]
  • MIR5704:microRNA 5704 [Gene - HGNC]
  • MIR6826:microRNA 6826 [Gene - HGNC]
  • MCM2:minichromosome maintenance complex component 2 [Gene - OMIM - HGNC]
  • MRPL3:mitochondrial ribosomal protein L3 [Gene - OMIM - HGNC]
  • MGLL:monoglyceride lipase [Gene - OMIM - HGNC]
  • LOC108644431:myotonic dystrophy type 2 repeat instability region [Gene]
  • NPHP3:nephrocystin 3 [Gene - OMIM - HGNC]
  • NUDT16:nudix hydrolase 16 [Gene - OMIM - HGNC]
  • PIK3R4:phosphoinositide-3-kinase regulatory subunit 4 [Gene - OMIM - HGNC]
  • PLXND1:plexin D1 [Gene - OMIM - HGNC]
  • PODXL2:podocalyxin like 2 [Gene - OMIM - HGNC]
  • RER:rhodopsin enhancer region [Gene]
  • RHO:rhodopsin [Gene - OMIM - HGNC]
  • RPN1:ribophorin I [Gene - OMIM - HGNC]
  • SNORA58:small nucleolar RNA, H/ACA box 58 [Gene - HGNC]
  • SNORA7B:small nucleolar RNA, H/ACA box 7B [Gene - HGNC]
  • TRC-GCA6-1:tRNA-Cys (anticodon GCA) 6-1 [Gene - HGNC]
  • TRC-GCA9-1:tRNA-Cys (anticodon GCA) 9-1 [Gene - HGNC]
  • TRH:thyrotropin releasing hormone [Gene - OMIM - HGNC]
  • TMCC1:transmembrane and coiled-coil domain family 1 [Gene - OMIM - HGNC]
  • TMEM108:transmembrane protein 108 [Gene - OMIM - HGNC]
  • UBA5:ubiquitin like modifier activating enzyme 5 [Gene - OMIM - HGNC]
  • LOC101927432:uncharacterized LOC101927432 [Gene]
  • LOC105374114:uncharacterized LOC105374114 [Gene]
  • LOC90246:uncharacterized LOC90246 [Gene]
Variant type:
copy number loss
Cytogenetic location:
3q21.3-22.1
Genomic location:
Preferred name:
GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1
HGVS:
  • NC_000003.12:g.(?_127607945)_(133566661_?)del
  • NC_000003.10:g.(?_128809478)_(134768195_?)del
  • NC_000003.11:g.(?_127326788)_(133285505_?)del
Links:
dbVar: nssv1495726; dbVar: nsv868824
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
SCV000177897ISCA site 1

See additional submitters

no assertion criteria provided
Likely pathogenic
(Dec 10, 2012) 		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 1, SCV000177897.4

#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