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GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)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:
RCV000053805.5

Allele description [Variation Report for GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1]

GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1

Genes:
  • OXCT2:3-oxoacid CoA-transferase 2 [Gene - OMIM - HGNC]
  • NT5C1A:5'-nucleotidase, cytosolic IA [Gene - OMIM - HGNC]
  • LOC129930184:ATAC-STARR-seq lymphoblastoid active region 788 [Gene]
  • LOC129930185:ATAC-STARR-seq lymphoblastoid active region 789 [Gene]
  • LOC129930186:ATAC-STARR-seq lymphoblastoid active region 790 [Gene]
  • LOC129930187:ATAC-STARR-seq lymphoblastoid active region 791 [Gene]
  • LOC129930188:ATAC-STARR-seq lymphoblastoid active region 792 [Gene]
  • LOC129930189:ATAC-STARR-seq lymphoblastoid active region 793 [Gene]
  • LOC129930190:ATAC-STARR-seq lymphoblastoid active region 794 [Gene]
  • LOC129930191:ATAC-STARR-seq lymphoblastoid active region 795 [Gene]
  • LOC129930192:ATAC-STARR-seq lymphoblastoid active region 797 [Gene]
  • LOC129930193:ATAC-STARR-seq lymphoblastoid active region 798 [Gene]
  • LOC129930196:ATAC-STARR-seq lymphoblastoid active region 800 [Gene]
  • LOC129930198:ATAC-STARR-seq lymphoblastoid active region 801 [Gene]
  • LOC129930199:ATAC-STARR-seq lymphoblastoid active region 802 [Gene]
  • LOC129930200:ATAC-STARR-seq lymphoblastoid active region 803 [Gene]
  • LOC129930204:ATAC-STARR-seq lymphoblastoid active region 804 [Gene]
  • LOC129930205:ATAC-STARR-seq lymphoblastoid active region 806 [Gene]
  • LOC129930206:ATAC-STARR-seq lymphoblastoid active region 807 [Gene]
  • LOC129930209:ATAC-STARR-seq lymphoblastoid active region 808 [Gene]
  • LOC129930210:ATAC-STARR-seq lymphoblastoid active region 809 [Gene]
  • LOC129930211:ATAC-STARR-seq lymphoblastoid active region 810 [Gene]
  • LOC129930216:ATAC-STARR-seq lymphoblastoid active region 811 [Gene]
  • LOC129930218:ATAC-STARR-seq lymphoblastoid active region 812 [Gene]
  • LOC129930219:ATAC-STARR-seq lymphoblastoid active region 813 [Gene]
  • LOC129930220:ATAC-STARR-seq lymphoblastoid active region 814 [Gene]
  • LOC129930230:ATAC-STARR-seq lymphoblastoid active region 816 [Gene]
  • LOC129930231:ATAC-STARR-seq lymphoblastoid active region 817 [Gene]
  • LOC129930232:ATAC-STARR-seq lymphoblastoid active region 818 [Gene]
  • LOC129930233:ATAC-STARR-seq lymphoblastoid active region 819 [Gene]
  • LOC129930234:ATAC-STARR-seq lymphoblastoid active region 821 [Gene]
  • LOC129930235:ATAC-STARR-seq lymphoblastoid active region 822 [Gene]
  • LOC129930240:ATAC-STARR-seq lymphoblastoid active region 823 [Gene]
  • LOC129930243:ATAC-STARR-seq lymphoblastoid active region 824 [Gene]
  • LOC129930245:ATAC-STARR-seq lymphoblastoid active region 829 [Gene]
  • LOC129930246:ATAC-STARR-seq lymphoblastoid active region 830 [Gene]
  • LOC129930247:ATAC-STARR-seq lymphoblastoid active region 831 [Gene]
  • LOC129930250:ATAC-STARR-seq lymphoblastoid active region 833 [Gene]
  • LOC129930251:ATAC-STARR-seq lymphoblastoid active region 834 [Gene]
  • LOC129930252:ATAC-STARR-seq lymphoblastoid active region 835 [Gene]
  • LOC129930253:ATAC-STARR-seq lymphoblastoid active region 836 [Gene]
  • LOC129930254:ATAC-STARR-seq lymphoblastoid active region 837 [Gene]
  • LOC129930255:ATAC-STARR-seq lymphoblastoid active region 838 [Gene]
  • LOC129930256:ATAC-STARR-seq lymphoblastoid active region 839 [Gene]
  • LOC129930257:ATAC-STARR-seq lymphoblastoid active region 840 [Gene]
  • LOC129930258:ATAC-STARR-seq lymphoblastoid active region 841 [Gene]
  • LOC129930259:ATAC-STARR-seq lymphoblastoid active region 842 [Gene]
  • LOC129930262:ATAC-STARR-seq lymphoblastoid active region 843 [Gene]
  • LOC129930263:ATAC-STARR-seq lymphoblastoid active region 844 [Gene]
  • LOC129930266:ATAC-STARR-seq lymphoblastoid active region 845 [Gene]
  • LOC129930269:ATAC-STARR-seq lymphoblastoid active region 846 [Gene]
  • LOC129930270:ATAC-STARR-seq lymphoblastoid active region 847 [Gene]
  • LOC129930273:ATAC-STARR-seq lymphoblastoid active region 848 [Gene]
  • LOC129930274:ATAC-STARR-seq lymphoblastoid active region 849 [Gene]
  • LOC129930276:ATAC-STARR-seq lymphoblastoid active region 850 [Gene]
  • LOC129930277:ATAC-STARR-seq lymphoblastoid active region 851 [Gene]
  • 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]
  • LOC129930194:ATAC-STARR-seq lymphoblastoid silent region 688 [Gene]
  • LOC129930195:ATAC-STARR-seq lymphoblastoid silent region 691 [Gene]
  • LOC129930197:ATAC-STARR-seq lymphoblastoid silent region 692 [Gene]
  • LOC129930201:ATAC-STARR-seq lymphoblastoid silent region 693 [Gene]
  • LOC129930202:ATAC-STARR-seq lymphoblastoid silent region 694 [Gene]
  • LOC129930203:ATAC-STARR-seq lymphoblastoid silent region 695 [Gene]
  • LOC129930207:ATAC-STARR-seq lymphoblastoid silent region 696 [Gene]
  • LOC129930208:ATAC-STARR-seq lymphoblastoid silent region 697 [Gene]
  • LOC129930212:ATAC-STARR-seq lymphoblastoid silent region 698 [Gene]
  • LOC129930213:ATAC-STARR-seq lymphoblastoid silent region 699 [Gene]
  • LOC129930214:ATAC-STARR-seq lymphoblastoid silent region 700 [Gene]
  • LOC129930215:ATAC-STARR-seq lymphoblastoid silent region 701 [Gene]
  • LOC129930217:ATAC-STARR-seq lymphoblastoid silent region 702 [Gene]
  • LOC129930221:ATAC-STARR-seq lymphoblastoid silent region 703 [Gene]
  • LOC129930222:ATAC-STARR-seq lymphoblastoid silent region 704 [Gene]
  • LOC129930223:ATAC-STARR-seq lymphoblastoid silent region 705 [Gene]
  • LOC129930224:ATAC-STARR-seq lymphoblastoid silent region 706 [Gene]
  • LOC129930225:ATAC-STARR-seq lymphoblastoid silent region 707 [Gene]
  • LOC129930226:ATAC-STARR-seq lymphoblastoid silent region 708 [Gene]
  • LOC129930227:ATAC-STARR-seq lymphoblastoid silent region 709 [Gene]
  • LOC129930228:ATAC-STARR-seq lymphoblastoid silent region 710 [Gene]
  • LOC129930229:ATAC-STARR-seq lymphoblastoid silent region 711 [Gene]
  • LOC129930236:ATAC-STARR-seq lymphoblastoid silent region 714 [Gene]
  • LOC129930237:ATAC-STARR-seq lymphoblastoid silent region 715 [Gene]
  • LOC129930238:ATAC-STARR-seq lymphoblastoid silent region 716 [Gene]
  • LOC129930239:ATAC-STARR-seq lymphoblastoid silent region 717 [Gene]
  • LOC129930241:ATAC-STARR-seq lymphoblastoid silent region 718 [Gene]
  • LOC129930242:ATAC-STARR-seq lymphoblastoid silent region 719 [Gene]
  • LOC129930244:ATAC-STARR-seq lymphoblastoid silent region 720 [Gene]
  • LOC129930248:ATAC-STARR-seq lymphoblastoid silent region 721 [Gene]
  • LOC129930249:ATAC-STARR-seq lymphoblastoid silent region 722 [Gene]
  • LOC129930260:ATAC-STARR-seq lymphoblastoid silent region 723 [Gene]
  • LOC129930261:ATAC-STARR-seq lymphoblastoid silent region 724 [Gene]
  • LOC129930264:ATAC-STARR-seq lymphoblastoid silent region 726 [Gene]
  • LOC129930265:ATAC-STARR-seq lymphoblastoid silent region 727 [Gene]
  • LOC129930267:ATAC-STARR-seq lymphoblastoid silent region 728 [Gene]
  • LOC129930268:ATAC-STARR-seq lymphoblastoid silent region 729 [Gene]
  • LOC129930271:ATAC-STARR-seq lymphoblastoid silent region 730 [Gene]
  • LOC129930272:ATAC-STARR-seq lymphoblastoid silent region 731 [Gene]
  • LOC129930275:ATAC-STARR-seq lymphoblastoid silent region 732 [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]
  • LOC126805708:BRD4-independent group 4 enhancer GRCh37_chr1:39021300-39022499 [Gene]
  • LOC126805712:BRD4-independent group 4 enhancer GRCh37_chr1:40535511-40536710 [Gene]
  • LOC126805716:BRD4-independent group 4 enhancer GRCh37_chr1:41363720-41364919 [Gene]
  • LOC126805711:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:39824023-39825222 [Gene]
  • LOC126805714:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:41093974-41095173 [Gene]
  • LOC115801425:CRISPRi-validated cis-regulatory element chr1.5052 [Gene]
  • CTPS1:CTP synthase 1 [Gene - OMIM - HGNC]
  • CITED4:Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 4 [Gene - OMIM - HGNC]
  • EXO5-DT:EXO5 divergent transcript [Gene - HGNC]
  • FOXO6-AS1:FOXO6 antisense RNA 1 [Gene - HGNC]
  • LOC111464991:GATA motif-containing MPRA enhancers 242 and 247 [Gene]
  • GJA9-MYCBP:GJA9-MYCBP readthrough [Gene]
  • HIVEP3:HIVEP zinc finger 3 [Gene - OMIM - HGNC]
  • KIAA0754:KIAA0754 [Gene - HGNC]
  • LOC114803468:MACF1 eExon liver enhancer [Gene]
  • LOC126805710:MED14-independent group 3 enhancer GRCh37_chr1:39812278-39813477 [Gene]
  • LOC126805717:MED14-independent group 3 enhancer GRCh37_chr1:41472557-41473756 [Gene]
  • MFSD2A:MFSD2 lysolipid transporter A, lysophospholipid [Gene - OMIM - HGNC]
  • MIR3659HG:MIR3659 host gene [Gene - HGNC]
  • LOC129388500:MPRA-validated peak186 silencer [Gene]
  • LOC129388501:MPRA-validated peak189 silencer [Gene]
  • LOC129388502:MPRA-validated peak193 silencer [Gene]
  • MYCBP:MYC binding protein [Gene - OMIM - HGNC]
  • MYCL-AS1:MYCL antisense RNA 1 [Gene - HGNC]
  • MYCL:MYCL proto-oncogene, bHLH transcription factor [Gene - OMIM - HGNC]
  • NDUFS5:NADH:ubiquinone oxidoreductase subunit S5 [Gene - OMIM - HGNC]
  • NFYC-AS1:NFYC antisense RNA 1 [Gene - HGNC]
  • LOC132088712:Neanderthal introgressed variant-containing enhancer experimental_7850 [Gene]
  • LOC132088713:Neanderthal introgressed variant-containing enhancer experimental_7853 [Gene]
  • LOC132088714:Neanderthal introgressed variant-containing enhancer experimental_7860 [Gene]
  • LOC132088715:Neanderthal introgressed variant-containing enhancer experimental_7951 [Gene]
  • LOC132088716:Neanderthal introgressed variant-containing enhancer experimental_7954 [Gene]
  • LOC132088717:Neanderthal introgressed variant-containing enhancer experimental_7957 [Gene]
  • LOC132088718:Neanderthal introgressed variant-containing enhancer experimental_8011 [Gene]
  • LOC132088719:Neanderthal introgressed variant-containing enhancer experimental_8062 [Gene]
  • LOC126805709:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:39648813-39650012 [Gene]
  • LOC126805713:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:40916242-40917441 [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]
  • PABPC4-AS1:PABPC4 antisense RNA 1 [Gene - HGNC]
  • RLF:RLF zinc finger [Gene - OMIM - HGNC]
  • RRAGC-DT:RRAGC divergent transcript [Gene - HGNC]
  • RRAGC:Ras related GTP binding C [Gene - OMIM - HGNC]
  • SCMH1-DT:SCMH1 divergent transcript [Gene - HGNC]
  • SLFNL1-AS1:SLFNL1 antisense RNA 1 [Gene - HGNC]
  • SCMH1:Scm polycomb group protein homolog 1 [Gene - OMIM - HGNC]
  • LOC121725019:Sharpr-MPRA regulatory region 10195 [Gene]
  • LOC122056844:Sharpr-MPRA regulatory region 11139 [Gene]
  • LOC120893131:Sharpr-MPRA regulatory region 12321 [Gene]
  • LOC122056847:Sharpr-MPRA regulatory region 12776 [Gene]
  • LOC122056846:Sharpr-MPRA regulatory region 1319 [Gene]
  • LOC121725014:Sharpr-MPRA regulatory region 13734 [Gene]
  • LOC112577595:Sharpr-MPRA regulatory region 1530 [Gene]
  • LOC121725017:Sharpr-MPRA regulatory region 246 [Gene]
  • LOC120893132:Sharpr-MPRA regulatory region 301 [Gene]
  • LOC121725016:Sharpr-MPRA regulatory region 3563 [Gene]
  • LOC122056848:Sharpr-MPRA regulatory region 3622 [Gene]
  • LOC112577596:Sharpr-MPRA regulatory region 3933 [Gene]
  • LOC112577597:Sharpr-MPRA regulatory region 4263 [Gene]
  • LOC122056845:Sharpr-MPRA regulatory region 4660 [Gene]
  • LOC122056842:Sharpr-MPRA regulatory region 593 [Gene]
  • LOC112577598:Sharpr-MPRA regulatory region 6057 [Gene]
  • LOC122056843:Sharpr-MPRA regulatory region 6545 [Gene]
  • LOC122056849:Sharpr-MPRA regulatory region 8090 [Gene]
  • LOC120893133:Sharpr-MPRA regulatory region 9331 [Gene]
  • LOC121725018:Sharpr-MPRA regulatory region 9429 [Gene]
  • LOC112577594:Sharpr-MPRA regulatory region 9528 [Gene]
  • LOC112590790:Sharpr-MPRA regulatory region 968 [Gene]
  • LOC112577599:Sharpr-MPRA regulatory region 98 [Gene]
  • LOC110120958:VISTA enhancer hs1001 [Gene]
  • LOC110120969:VISTA enhancer hs1031 [Gene]
  • LOC110121002:VISTA enhancer hs1139 [Gene]
  • LOC110121139:VISTA enhancer hs1546 [Gene]
  • LOC110121256:VISTA enhancer hs2088 [Gene]
  • ZFP69B:ZFP69 zinc finger protein B [Gene - HGNC]
  • ZFP69:ZFP69 zinc finger protein [Gene - OMIM - HGNC]
  • AKIRIN1:akirin 1 [Gene - OMIM - HGNC]
  • BMP8A:bone morphogenetic protein 8a [Gene - HGNC]
  • BMP8B:bone morphogenetic protein 8b [Gene - OMIM - HGNC]
  • COL9A2:collagen type IX alpha 2 chain [Gene - OMIM - HGNC]
  • CAP1:cyclase associated actin cytoskeleton regulatory protein 1 [Gene - OMIM - HGNC]
  • EDN2:endothelin 2 [Gene - OMIM - HGNC]
  • EXO5:exonuclease 5 [Gene - OMIM - HGNC]
  • FOXJ3:forkhead box J3 [Gene - OMIM - HGNC]
  • FOXO6:forkhead box O6 [Gene - OMIM - HGNC]
  • GJA9:gap junction protein alpha 9 [Gene - OMIM - HGNC]
  • GUCA2A:guanylate cyclase activator 2A [Gene - OMIM - HGNC]
  • GUCA2B:guanylate cyclase activator 2B [Gene - OMIM - HGNC]
  • HEYL:hes related family bHLH transcription factor with YRPW motif like [Gene - OMIM - HGNC]
  • HPCAL4:hippocalcin like 4 [Gene - OMIM - HGNC]
  • LINC01343:long intergenic non-protein coding RNA 1343 [Gene - HGNC]
  • LINC01685:long intergenic non-protein coding RNA 1685 [Gene - HGNC]
  • LINC02811:long intergenic non-protein coding RNA 2811 [Gene - HGNC]
  • MIR30C1:microRNA 30c-1 [Gene - OMIM - HGNC]
  • MIR30E:microRNA 30e [Gene - OMIM - HGNC]
  • MACF1:microtubule actin crosslinking factor 1 [Gene - OMIM - HGNC]
  • NFYC:nuclear transcription factor Y subunit gamma [Gene - OMIM - HGNC]
  • PPT1:palmitoyl-protein thioesterase 1 [Gene - OMIM - HGNC]
  • PPIE:peptidylprolyl isomerase E [Gene - OMIM - HGNC]
  • PABPC4:poly(A) binding protein cytoplasmic 4 [Gene - OMIM - HGNC]
  • KCNQ4:potassium voltage-gated channel subfamily Q member 4 [Gene - OMIM - HGNC]
  • RIMS3:regulating synaptic membrane exocytosis 3 [Gene - OMIM - HGNC]
  • RHBDL2:rhomboid like 2 [Gene - OMIM - HGNC]
  • SLFNL1:schlafen like 1 [Gene - HGNC]
  • SMAP2:small ArfGAP2 [Gene - OMIM - HGNC]
  • SNORA55:small nucleolar RNA, H/ACA box 55 [Gene - HGNC]
  • TRIT1:tRNA isopentenyltransferase 1 [Gene - OMIM - HGNC]
  • TMCO2:transmembrane and coiled-coil domains 2 [Gene - HGNC]
  • LOC101929536:uncharacterized LOC101929536 [Gene]
  • LOC128125817:uncharacterized LOC128125817 [Gene]
  • LOC130932201:uncharacterized LOC130932201 [Gene]
  • ZNF684:zinc finger protein 684 [Gene - HGNC]
  • ZMPSTE24:zinc metallopeptidase STE24 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1p34.3-34.2
Genomic location:
Preferred name:
GRCh38/hg38 1p34.3-34.2(chr1:38108665-42327551)x1
HGVS:
  • NC_000001.11:g.(?_38108665)_(42327551_?)del
  • NC_000001.10:g.(?_38574337)_(42793222_?)del
  • NC_000001.9:g.(?_38346924)_(42565809_?)del
Links:
dbVar: nssv577200; dbVar: nsv532464
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
SCV000081168ISCA site 4

See additional submitters

criteria provided, single submitter

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

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not 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, SCV000081168.4

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

Last Updated: May 7, 2024