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GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000050706.7

Allele description [Variation Report for GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1]

GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1

Genes:
  • LOC129930278:ATAC-STARR-seq lymphoblastoid active region 852 [Gene]
  • LOC129930280:ATAC-STARR-seq lymphoblastoid active region 853 [Gene]
  • LOC129930281:ATAC-STARR-seq lymphoblastoid active region 854 [Gene]
  • LOC129930282:ATAC-STARR-seq lymphoblastoid active region 855 [Gene]
  • LOC129930284:ATAC-STARR-seq lymphoblastoid active region 856 [Gene]
  • LOC129930287:ATAC-STARR-seq lymphoblastoid active region 857 [Gene]
  • LOC129930291:ATAC-STARR-seq lymphoblastoid active region 858 [Gene]
  • LOC129930292:ATAC-STARR-seq lymphoblastoid active region 859 [Gene]
  • LOC129930293:ATAC-STARR-seq lymphoblastoid active region 860 [Gene]
  • LOC129930297:ATAC-STARR-seq lymphoblastoid active region 861 [Gene]
  • LOC129930298:ATAC-STARR-seq lymphoblastoid active region 862 [Gene]
  • LOC129930299:ATAC-STARR-seq lymphoblastoid active region 863 [Gene]
  • LOC129930302:ATAC-STARR-seq lymphoblastoid active region 864 [Gene]
  • LOC129930304:ATAC-STARR-seq lymphoblastoid active region 865 [Gene]
  • LOC129930305:ATAC-STARR-seq lymphoblastoid active region 866 [Gene]
  • LOC129930307:ATAC-STARR-seq lymphoblastoid active region 867 [Gene]
  • LOC129930308:ATAC-STARR-seq lymphoblastoid active region 868 [Gene]
  • LOC129930309:ATAC-STARR-seq lymphoblastoid active region 869 [Gene]
  • LOC129930311:ATAC-STARR-seq lymphoblastoid active region 870 [Gene]
  • LOC129930312:ATAC-STARR-seq lymphoblastoid active region 871 [Gene]
  • LOC129930313:ATAC-STARR-seq lymphoblastoid active region 872 [Gene]
  • LOC129930314:ATAC-STARR-seq lymphoblastoid active region 873 [Gene]
  • LOC129930315:ATAC-STARR-seq lymphoblastoid active region 874 [Gene]
  • LOC129930316:ATAC-STARR-seq lymphoblastoid active region 875 [Gene]
  • LOC129930319:ATAC-STARR-seq lymphoblastoid active region 876 [Gene]
  • LOC129930320:ATAC-STARR-seq lymphoblastoid active region 877 [Gene]
  • LOC129930321:ATAC-STARR-seq lymphoblastoid active region 878 [Gene]
  • LOC129930322:ATAC-STARR-seq lymphoblastoid active region 879 [Gene]
  • LOC129930323:ATAC-STARR-seq lymphoblastoid active region 880 [Gene]
  • LOC129930324:ATAC-STARR-seq lymphoblastoid active region 881 [Gene]
  • LOC129930325:ATAC-STARR-seq lymphoblastoid active region 882 [Gene]
  • LOC129930326:ATAC-STARR-seq lymphoblastoid active region 883 [Gene]
  • LOC129930327:ATAC-STARR-seq lymphoblastoid active region 884 [Gene]
  • LOC129930328:ATAC-STARR-seq lymphoblastoid active region 885 [Gene]
  • LOC129930329:ATAC-STARR-seq lymphoblastoid active region 886 [Gene]
  • LOC129930330:ATAC-STARR-seq lymphoblastoid active region 887 [Gene]
  • LOC129930331:ATAC-STARR-seq lymphoblastoid active region 888 [Gene]
  • LOC129930333:ATAC-STARR-seq lymphoblastoid active region 889 [Gene]
  • LOC129930334:ATAC-STARR-seq lymphoblastoid active region 890 [Gene]
  • LOC129930336:ATAC-STARR-seq lymphoblastoid active region 891 [Gene]
  • LOC129930342:ATAC-STARR-seq lymphoblastoid active region 892 [Gene]
  • LOC129930343:ATAC-STARR-seq lymphoblastoid active region 893 [Gene]
  • LOC129930344:ATAC-STARR-seq lymphoblastoid active region 894 [Gene]
  • LOC129930346:ATAC-STARR-seq lymphoblastoid active region 895 [Gene]
  • LOC129930351:ATAC-STARR-seq lymphoblastoid active region 896 [Gene]
  • LOC129930357:ATAC-STARR-seq lymphoblastoid active region 897 [Gene]
  • LOC129930358:ATAC-STARR-seq lymphoblastoid active region 898 [Gene]
  • LOC129930359:ATAC-STARR-seq lymphoblastoid active region 899 [Gene]
  • LOC129930360:ATAC-STARR-seq lymphoblastoid active region 900 [Gene]
  • LOC129930361:ATAC-STARR-seq lymphoblastoid active region 901 [Gene]
  • LOC129930362:ATAC-STARR-seq lymphoblastoid active region 902 [Gene]
  • LOC129930363:ATAC-STARR-seq lymphoblastoid active region 903 [Gene]
  • LOC129930364:ATAC-STARR-seq lymphoblastoid active region 906 [Gene]
  • LOC129930365:ATAC-STARR-seq lymphoblastoid active region 907 [Gene]
  • LOC129930366:ATAC-STARR-seq lymphoblastoid active region 908 [Gene]
  • LOC129930367:ATAC-STARR-seq lymphoblastoid active region 909 [Gene]
  • LOC129930368:ATAC-STARR-seq lymphoblastoid active region 910 [Gene]
  • LOC129930372:ATAC-STARR-seq lymphoblastoid active region 914 [Gene]
  • LOC129930374:ATAC-STARR-seq lymphoblastoid active region 915 [Gene]
  • LOC129930375:ATAC-STARR-seq lymphoblastoid active region 916 [Gene]
  • LOC129930377:ATAC-STARR-seq lymphoblastoid active region 917 [Gene]
  • LOC129930378:ATAC-STARR-seq lymphoblastoid active region 918 [Gene]
  • LOC129930383:ATAC-STARR-seq lymphoblastoid active region 919 [Gene]
  • LOC129930385:ATAC-STARR-seq lymphoblastoid active region 920 [Gene]
  • LOC129930386:ATAC-STARR-seq lymphoblastoid active region 921 [Gene]
  • LOC129930388:ATAC-STARR-seq lymphoblastoid active region 923 [Gene]
  • LOC129930389:ATAC-STARR-seq lymphoblastoid active region 924 [Gene]
  • LOC129930391:ATAC-STARR-seq lymphoblastoid active region 925 [Gene]
  • LOC129930392:ATAC-STARR-seq lymphoblastoid active region 926 [Gene]
  • LOC129930393:ATAC-STARR-seq lymphoblastoid active region 927 [Gene]
  • LOC129930398:ATAC-STARR-seq lymphoblastoid active region 928 [Gene]
  • LOC129930402:ATAC-STARR-seq lymphoblastoid active region 931 [Gene]
  • LOC129930403:ATAC-STARR-seq lymphoblastoid active region 932 [Gene]
  • LOC129930404:ATAC-STARR-seq lymphoblastoid active region 933 [Gene]
  • LOC129930405:ATAC-STARR-seq lymphoblastoid active region 934 [Gene]
  • LOC129930407:ATAC-STARR-seq lymphoblastoid active region 935 [Gene]
  • LOC129930408:ATAC-STARR-seq lymphoblastoid active region 936 [Gene]
  • LOC129930279:ATAC-STARR-seq lymphoblastoid silent region 733 [Gene]
  • LOC129930283:ATAC-STARR-seq lymphoblastoid silent region 735 [Gene]
  • LOC129930285:ATAC-STARR-seq lymphoblastoid silent region 736 [Gene]
  • LOC129930286:ATAC-STARR-seq lymphoblastoid silent region 737 [Gene]
  • LOC129930288:ATAC-STARR-seq lymphoblastoid silent region 738 [Gene]
  • LOC129930289:ATAC-STARR-seq lymphoblastoid silent region 739 [Gene]
  • LOC129930290:ATAC-STARR-seq lymphoblastoid silent region 740 [Gene]
  • LOC129930294:ATAC-STARR-seq lymphoblastoid silent region 741 [Gene]
  • LOC129930295:ATAC-STARR-seq lymphoblastoid silent region 742 [Gene]
  • LOC129930296:ATAC-STARR-seq lymphoblastoid silent region 743 [Gene]
  • LOC129930300:ATAC-STARR-seq lymphoblastoid silent region 745 [Gene]
  • LOC129930301:ATAC-STARR-seq lymphoblastoid silent region 746 [Gene]
  • LOC129930303:ATAC-STARR-seq lymphoblastoid silent region 747 [Gene]
  • LOC129930306:ATAC-STARR-seq lymphoblastoid silent region 750 [Gene]
  • LOC129930310:ATAC-STARR-seq lymphoblastoid silent region 751 [Gene]
  • LOC129930317:ATAC-STARR-seq lymphoblastoid silent region 752 [Gene]
  • LOC129930318:ATAC-STARR-seq lymphoblastoid silent region 753 [Gene]
  • LOC129930332:ATAC-STARR-seq lymphoblastoid silent region 754 [Gene]
  • LOC129930335:ATAC-STARR-seq lymphoblastoid silent region 755 [Gene]
  • LOC129930337:ATAC-STARR-seq lymphoblastoid silent region 756 [Gene]
  • LOC129930338:ATAC-STARR-seq lymphoblastoid silent region 757 [Gene]
  • LOC129930339:ATAC-STARR-seq lymphoblastoid silent region 759 [Gene]
  • LOC129930340:ATAC-STARR-seq lymphoblastoid silent region 760 [Gene]
  • LOC129930341:ATAC-STARR-seq lymphoblastoid silent region 761 [Gene]
  • LOC129930345:ATAC-STARR-seq lymphoblastoid silent region 762 [Gene]
  • LOC129930347:ATAC-STARR-seq lymphoblastoid silent region 763 [Gene]
  • LOC129930348:ATAC-STARR-seq lymphoblastoid silent region 764 [Gene]
  • LOC129930349:ATAC-STARR-seq lymphoblastoid silent region 765 [Gene]
  • LOC129930350:ATAC-STARR-seq lymphoblastoid silent region 766 [Gene]
  • LOC129930352:ATAC-STARR-seq lymphoblastoid silent region 767 [Gene]
  • LOC129930353:ATAC-STARR-seq lymphoblastoid silent region 768 [Gene]
  • LOC129930354:ATAC-STARR-seq lymphoblastoid silent region 769 [Gene]
  • LOC129930355:ATAC-STARR-seq lymphoblastoid silent region 770 [Gene]
  • LOC129930356:ATAC-STARR-seq lymphoblastoid silent region 771 [Gene]
  • LOC129930369:ATAC-STARR-seq lymphoblastoid silent region 772 [Gene]
  • LOC129930370:ATAC-STARR-seq lymphoblastoid silent region 774 [Gene]
  • LOC129930371:ATAC-STARR-seq lymphoblastoid silent region 775 [Gene]
  • LOC129930373:ATAC-STARR-seq lymphoblastoid silent region 777 [Gene]
  • LOC129930376:ATAC-STARR-seq lymphoblastoid silent region 781 [Gene]
  • LOC129930379:ATAC-STARR-seq lymphoblastoid silent region 783 [Gene]
  • LOC129930380:ATAC-STARR-seq lymphoblastoid silent region 784 [Gene]
  • LOC129930381:ATAC-STARR-seq lymphoblastoid silent region 785 [Gene]
  • LOC129930382:ATAC-STARR-seq lymphoblastoid silent region 786 [Gene]
  • LOC129930384:ATAC-STARR-seq lymphoblastoid silent region 788 [Gene]
  • LOC129930387:ATAC-STARR-seq lymphoblastoid silent region 790 [Gene]
  • LOC129930390:ATAC-STARR-seq lymphoblastoid silent region 791 [Gene]
  • LOC129930394:ATAC-STARR-seq lymphoblastoid silent region 792 [Gene]
  • LOC129930395:ATAC-STARR-seq lymphoblastoid silent region 793 [Gene]
  • LOC129930396:ATAC-STARR-seq lymphoblastoid silent region 795 [Gene]
  • LOC129930397:ATAC-STARR-seq lymphoblastoid silent region 796 [Gene]
  • LOC129930399:ATAC-STARR-seq lymphoblastoid silent region 801 [Gene]
  • LOC129930400:ATAC-STARR-seq lymphoblastoid silent region 802 [Gene]
  • LOC129930401:ATAC-STARR-seq lymphoblastoid silent region 804 [Gene]
  • LOC129930406:ATAC-STARR-seq lymphoblastoid silent region 806 [Gene]
  • LOC129930409:ATAC-STARR-seq lymphoblastoid silent region 807 [Gene]
  • LOC129930410:ATAC-STARR-seq lymphoblastoid silent region 808 [Gene]
  • ATP6V0B:ATPase H+ transporting V0 subunit b [Gene - OMIM - HGNC]
  • LOC126805716:BRD4-independent group 4 enhancer GRCh37_chr1:41363720-41364919 [Gene]
  • LOC126805723:BRD4-independent group 4 enhancer GRCh37_chr1:44131983-44133182 [Gene]
  • CDC20-DT:CDC20 divergent transcript [Gene - HGNC]
  • LOC126805720:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:43786614-43787813 [Gene]
  • LOC126805725:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:44426574-44427773 [Gene]
  • LOC126805726:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:44437355-44438554 [Gene]
  • CTPS1:CTP synthase 1 [Gene - OMIM - HGNC]
  • CITED4:Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 4 [Gene - OMIM - HGNC]
  • DMAP1:DNA methyltransferase 1 associated protein 1 [Gene - OMIM - HGNC]
  • EBNA1BP2:EBNA1 binding protein 2 [Gene - OMIM - HGNC]
  • ELOVL1:ELOVL fatty acid elongase 1 [Gene - OMIM - HGNC]
  • ERI3:ERI1 exoribonuclease family member 3 [Gene - OMIM - HGNC]
  • ERI3-IT1:ERI3 intronic transcript 1 [Gene - HGNC]
  • FOXO6-AS1:FOXO6 antisense RNA 1 [Gene - HGNC]
  • LOC111464991:GATA motif-containing MPRA enhancers 242 and 247 [Gene]
  • HIVEP3:HIVEP zinc finger 3 [Gene - OMIM - HGNC]
  • HYI-AS1:HYI antisense RNA 1 [Gene - HGNC]
  • KDM4A-AS1:KDM4A antisense RNA 1 [Gene - HGNC]
  • KLF17:KLF transcription factor 17 [Gene - OMIM - HGNC]
  • KLF18:KLF transcription factor 18 [Gene - HGNC]
  • LOC128900003:KLF17 promoter region [Gene]
  • LOC128900004:KLF17-I enhancer [Gene]
  • LOC126805717:MED14-independent group 3 enhancer GRCh37_chr1:41472557-41473756 [Gene]
  • LOC126805724:MED14-independent group 3 enhancer GRCh37_chr1:44287043-44288242 [Gene]
  • MPL:MPL proto-oncogene, thrombopoietin receptor [Gene - OMIM - HGNC]
  • LOC129388502:MPRA-validated peak193 silencer [Gene]
  • LOC129388503:MPRA-validated peak194 silencer [Gene]
  • LOC129388504:MPRA-validated peak195 silencer [Gene]
  • LOC129388505:MPRA-validated peak196 silencer [Gene]
  • LOC132088718:Neanderthal introgressed variant-containing enhancer experimental_8011 [Gene]
  • LOC132088719:Neanderthal introgressed variant-containing enhancer experimental_8062 [Gene]
  • LOC132088721:Neanderthal introgressed variant-containing enhancer experimental_8150 [Gene]
  • LOC132088722:Neanderthal introgressed variant-containing enhancer experimental_8167 [Gene]
  • LOC122056852:OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:44126130-44126805 [Gene]
  • LOC126805715:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:41340995-41342194 [Gene]
  • LOC126805718:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:41951461-41952660 [Gene]
  • LOC126805719:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:43671864-43673063 [Gene]
  • LOC126805721:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:43838300-43839499 [Gene]
  • LOC126805722:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:43937485-43938684 [Gene]
  • SCMH1-DT:SCMH1 divergent transcript [Gene - HGNC]
  • SLC2A1-DT:SLC2A1 divergent transcript [Gene - HGNC]
  • SLFNL1-AS1:SLFNL1 antisense RNA 1 [Gene - HGNC]
  • ST3GAL3:ST3 beta-galactoside alpha-2,3-sialyltransferase 3 [Gene - OMIM - HGNC]
  • ST3GAL3-AS1:ST3GAL3 antisense RNA 1 [Gene - HGNC]
  • SZT2-AS1:SZT2 antisense RNA 1 [Gene - HGNC]
  • SZT2:SZT2 subunit of KICSTOR complex [Gene - OMIM - HGNC]
  • SCMH1:Scm polycomb group protein homolog 1 [Gene - OMIM - HGNC]
  • LOC121725019:Sharpr-MPRA regulatory region 10195 [Gene]
  • LOC122056851:Sharpr-MPRA regulatory region 10275 [Gene]
  • LOC112590792:Sharpr-MPRA regulatory region 11119 [Gene]
  • LOC112590793:Sharpr-MPRA regulatory region 11322 [Gene]
  • LOC122056847:Sharpr-MPRA regulatory region 12776 [Gene]
  • LOC122056846:Sharpr-MPRA regulatory region 1319 [Gene]
  • LOC122056854:Sharpr-MPRA regulatory region 15201 [Gene]
  • LOC112590794:Sharpr-MPRA regulatory region 23 [Gene]
  • LOC121725017:Sharpr-MPRA regulatory region 246 [Gene]
  • LOC112590795:Sharpr-MPRA regulatory region 3045 [Gene]
  • LOC121725016:Sharpr-MPRA regulatory region 3563 [Gene]
  • LOC122056848:Sharpr-MPRA regulatory region 3622 [Gene]
  • LOC121725020:Sharpr-MPRA regulatory region 3978 [Gene]
  • LOC122056845:Sharpr-MPRA regulatory region 4660 [Gene]
  • LOC112590791:Sharpr-MPRA regulatory region 4928 [Gene]
  • LOC122056850:Sharpr-MPRA regulatory region 619 [Gene]
  • LOC122056853:Sharpr-MPRA regulatory region 749 [Gene]
  • LOC122056849:Sharpr-MPRA regulatory region 8090 [Gene]
  • LOC120893133:Sharpr-MPRA regulatory region 9331 [Gene]
  • LOC121725018:Sharpr-MPRA regulatory region 9429 [Gene]
  • LOC112590790:Sharpr-MPRA regulatory region 968 [Gene]
  • TMEM269-DT:TMEM269 divergent transcript [Gene - HGNC]
  • LOC110121214:VISTA enhancer hs1857 [Gene]
  • LOC110120642:VISTA enhancer hs277 [Gene]
  • YBX1:Y-box binding protein 1 [Gene - OMIM - HGNC]
  • ZNF691-DT:ZNF691 divergent transcript [Gene - HGNC]
  • ARTN:artemin [Gene - OMIM - HGNC]
  • B4GALT2:beta-1,4-galactosyltransferase 2 [Gene - OMIM - HGNC]
  • CDC20:cell division cycle 20 [Gene - OMIM - HGNC]
  • C1orf210:chromosome 1 open reading frame 210 [Gene - OMIM - HGNC]
  • C1orf50:chromosome 1 open reading frame 50 [Gene - HGNC]
  • CFAP144:cilia and flagella associated protein 144 [Gene - HGNC]
  • CFAP57:cilia and flagella associated protein 57 [Gene - OMIM - HGNC]
  • CLDN19:claudin 19 [Gene - OMIM - HGNC]
  • CCDC24:coiled-coil domain containing 24 [Gene - HGNC]
  • CCDC30:coiled-coil domain containing 30 [Gene - HGNC]
  • DPH2:diphthamide biosynthesis 2 [Gene - OMIM - HGNC]
  • EDN2:endothelin 2 [Gene - OMIM - HGNC]
  • ERMAP:erythroblast membrane associated protein (Scianna blood group) [Gene - OMIM - HGNC]
  • FOXJ3:forkhead box J3 [Gene - OMIM - HGNC]
  • FOXO6:forkhead box O6 [Gene - OMIM - HGNC]
  • GUCA2A:guanylate cyclase activator 2A [Gene - OMIM - HGNC]
  • GUCA2B:guanylate cyclase activator 2B [Gene - OMIM - HGNC]
  • HYI:hydroxypyruvate isomerase (putative) [Gene - OMIM - HGNC]
  • IPO13:importin 13 [Gene - OMIM - HGNC]
  • KDM4A:lysine demethylase 4A [Gene - OMIM - HGNC]
  • MED8:mediator complex subunit 8 [Gene - OMIM - HGNC]
  • MIR30C1:microRNA 30c-1 [Gene - OMIM - HGNC]
  • MIR30E:microRNA 30e [Gene - OMIM - HGNC]
  • MIR6079:microRNA 6079 [Gene - HGNC]
  • MIR6733:microRNA 6733 [Gene - HGNC]
  • MIR6734:microRNA 6734 [Gene - HGNC]
  • MIR6735:microRNA 6735 [Gene - HGNC]
  • NFYC:nuclear transcription factor Y subunit gamma [Gene - OMIM - HGNC]
  • PPIH:peptidylprolyl isomerase H [Gene - OMIM - HGNC]
  • PPCS:phosphopantothenoylcysteine synthetase [Gene - OMIM - HGNC]
  • KCNQ4:potassium voltage-gated channel subfamily Q member 4 [Gene - OMIM - HGNC]
  • P3H1:prolyl 3-hydroxylase 1 [Gene - OMIM - HGNC]
  • PTPRF:protein tyrosine phosphatase receptor type F [Gene - OMIM - HGNC]
  • RIMKLA:ribosomal modification protein rimK like family member A [Gene - OMIM - HGNC]
  • RNF220:ring finger protein 220 [Gene - OMIM - HGNC]
  • SLFNL1:schlafen like 1 [Gene - HGNC]
  • SNORA110:small nucleolar RNA, H/ACA box 110 [Gene - HGNC]
  • SVBP:small vasohibin binding protein [Gene - OMIM - HGNC]
  • SLC2A1:solute carrier family 2 member 1 [Gene - OMIM - HGNC]
  • SLC6A9:solute carrier family 6 member 9 [Gene - OMIM - HGNC]
  • TMEM125:transmembrane protein 125 [Gene - HGNC]
  • TMEM269:transmembrane protein 269 [Gene - HGNC]
  • TIE1:tyrosine kinase with immunoglobulin like and EGF like domains 1 [Gene - OMIM - HGNC]
  • LOC101929609:uncharacterized LOC101929609 [Gene]
  • LOC128125817:uncharacterized LOC128125817 [Gene]
  • LOC339539:uncharacterized LOC339539 [Gene]
  • ZMYND12:zinc finger MYND-type containing 12 [Gene - HGNC]
  • ZNF691:zinc finger protein 691 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1p34.2-34.1
Genomic location:
Preferred name:
GRCh38/hg38 1p34.2-34.1(chr1:40693289-44514104)x1
HGVS:
  • NC_000001.11:g.(?_40693289)_(44514104_?)del
  • NC_000001.10:g.(?_41158961)_(44979776_?)del
  • NC_000001.9:g.(?_40931548)_(44752363_?)del
Links:
dbVar: nssv577202; dbVar: nsv529323
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
SCV000078038ISCA site 4

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		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

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From ISCA site 4, SCV000078038.4

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

Last Updated: Sep 1, 2024