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GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)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:
RCV000053802.6

Allele description

GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1

Genes:
  • LOC129929978:ATAC-STARR-seq lymphoblastoid active region 635 [Gene]
  • LOC129929979:ATAC-STARR-seq lymphoblastoid active region 636 [Gene]
  • LOC129929981:ATAC-STARR-seq lymphoblastoid active region 637 [Gene]
  • LOC129929983:ATAC-STARR-seq lymphoblastoid active region 640 [Gene]
  • LOC129929985:ATAC-STARR-seq lymphoblastoid active region 641 [Gene]
  • LOC129929987:ATAC-STARR-seq lymphoblastoid active region 642 [Gene]
  • LOC129929988:ATAC-STARR-seq lymphoblastoid active region 643 [Gene]
  • LOC129929990:ATAC-STARR-seq lymphoblastoid active region 644 [Gene]
  • LOC129929991:ATAC-STARR-seq lymphoblastoid active region 645 [Gene]
  • LOC129929993:ATAC-STARR-seq lymphoblastoid active region 646 [Gene]
  • LOC129929995:ATAC-STARR-seq lymphoblastoid active region 649 [Gene]
  • LOC129929997:ATAC-STARR-seq lymphoblastoid active region 651 [Gene]
  • LOC129929998:ATAC-STARR-seq lymphoblastoid active region 652 [Gene]
  • LOC129930002:ATAC-STARR-seq lymphoblastoid active region 653 [Gene]
  • LOC129930003:ATAC-STARR-seq lymphoblastoid active region 654 [Gene]
  • LOC129930005:ATAC-STARR-seq lymphoblastoid active region 655 [Gene]
  • LOC129930006:ATAC-STARR-seq lymphoblastoid active region 656 [Gene]
  • LOC129930007:ATAC-STARR-seq lymphoblastoid active region 657 [Gene]
  • LOC129930008:ATAC-STARR-seq lymphoblastoid active region 658 [Gene]
  • LOC129930009:ATAC-STARR-seq lymphoblastoid active region 659 [Gene]
  • LOC129930010:ATAC-STARR-seq lymphoblastoid active region 660 [Gene]
  • LOC129930012:ATAC-STARR-seq lymphoblastoid active region 661 [Gene]
  • LOC129930013:ATAC-STARR-seq lymphoblastoid active region 665 [Gene]
  • LOC129930014:ATAC-STARR-seq lymphoblastoid active region 666 [Gene]
  • LOC129930015:ATAC-STARR-seq lymphoblastoid active region 667 [Gene]
  • LOC129930017:ATAC-STARR-seq lymphoblastoid active region 670 [Gene]
  • LOC129930018:ATAC-STARR-seq lymphoblastoid active region 671 [Gene]
  • LOC129930019:ATAC-STARR-seq lymphoblastoid active region 672 [Gene]
  • LOC129930020:ATAC-STARR-seq lymphoblastoid active region 675 [Gene]
  • LOC129930021:ATAC-STARR-seq lymphoblastoid active region 676 [Gene]
  • LOC129930023:ATAC-STARR-seq lymphoblastoid active region 677 [Gene]
  • LOC129930024:ATAC-STARR-seq lymphoblastoid active region 678 [Gene]
  • LOC129930025:ATAC-STARR-seq lymphoblastoid active region 679 [Gene]
  • LOC129930026:ATAC-STARR-seq lymphoblastoid active region 680 [Gene]
  • LOC129930027:ATAC-STARR-seq lymphoblastoid active region 681 [Gene]
  • LOC129930031:ATAC-STARR-seq lymphoblastoid active region 682 [Gene]
  • LOC129930032:ATAC-STARR-seq lymphoblastoid active region 683 [Gene]
  • LOC129930033:ATAC-STARR-seq lymphoblastoid active region 684 [Gene]
  • LOC129930036:ATAC-STARR-seq lymphoblastoid active region 685 [Gene]
  • LOC129930039:ATAC-STARR-seq lymphoblastoid active region 686 [Gene]
  • LOC129930043:ATAC-STARR-seq lymphoblastoid active region 689 [Gene]
  • LOC129930044:ATAC-STARR-seq lymphoblastoid active region 690 [Gene]
  • LOC129930045:ATAC-STARR-seq lymphoblastoid active region 691 [Gene]
  • LOC129930048:ATAC-STARR-seq lymphoblastoid active region 692 [Gene]
  • LOC129930049:ATAC-STARR-seq lymphoblastoid active region 693 [Gene]
  • LOC129930051:ATAC-STARR-seq lymphoblastoid active region 694 [Gene]
  • LOC129930053:ATAC-STARR-seq lymphoblastoid active region 695 [Gene]
  • LOC129930054:ATAC-STARR-seq lymphoblastoid active region 696 [Gene]
  • LOC129930057:ATAC-STARR-seq lymphoblastoid active region 697 [Gene]
  • LOC129930058:ATAC-STARR-seq lymphoblastoid active region 699 [Gene]
  • LOC129930059:ATAC-STARR-seq lymphoblastoid active region 700 [Gene]
  • LOC129930060:ATAC-STARR-seq lymphoblastoid active region 701 [Gene]
  • LOC129930066:ATAC-STARR-seq lymphoblastoid active region 702 [Gene]
  • LOC129930067:ATAC-STARR-seq lymphoblastoid active region 704 [Gene]
  • LOC129930068:ATAC-STARR-seq lymphoblastoid active region 705 [Gene]
  • LOC129930070:ATAC-STARR-seq lymphoblastoid active region 706 [Gene]
  • LOC129929976:ATAC-STARR-seq lymphoblastoid silent region 561 [Gene]
  • LOC129929977:ATAC-STARR-seq lymphoblastoid silent region 562 [Gene]
  • LOC129929980:ATAC-STARR-seq lymphoblastoid silent region 563 [Gene]
  • LOC129929982:ATAC-STARR-seq lymphoblastoid silent region 565 [Gene]
  • LOC129929984:ATAC-STARR-seq lymphoblastoid silent region 566 [Gene]
  • LOC129929986:ATAC-STARR-seq lymphoblastoid silent region 569 [Gene]
  • LOC129929989:ATAC-STARR-seq lymphoblastoid silent region 570 [Gene]
  • LOC129929992:ATAC-STARR-seq lymphoblastoid silent region 571 [Gene]
  • LOC129929994:ATAC-STARR-seq lymphoblastoid silent region 572 [Gene]
  • LOC129929996:ATAC-STARR-seq lymphoblastoid silent region 573 [Gene]
  • LOC129929999:ATAC-STARR-seq lymphoblastoid silent region 574 [Gene]
  • LOC129930000:ATAC-STARR-seq lymphoblastoid silent region 576 [Gene]
  • LOC129930001:ATAC-STARR-seq lymphoblastoid silent region 578 [Gene]
  • LOC129930004:ATAC-STARR-seq lymphoblastoid silent region 579 [Gene]
  • LOC129930011:ATAC-STARR-seq lymphoblastoid silent region 581 [Gene]
  • LOC129930016:ATAC-STARR-seq lymphoblastoid silent region 583 [Gene]
  • LOC129930022:ATAC-STARR-seq lymphoblastoid silent region 586 [Gene]
  • LOC129930028:ATAC-STARR-seq lymphoblastoid silent region 587 [Gene]
  • LOC129930029:ATAC-STARR-seq lymphoblastoid silent region 588 [Gene]
  • LOC129930030:ATAC-STARR-seq lymphoblastoid silent region 589 [Gene]
  • LOC129930034:ATAC-STARR-seq lymphoblastoid silent region 590 [Gene]
  • LOC129930035:ATAC-STARR-seq lymphoblastoid silent region 591 [Gene]
  • LOC129930037:ATAC-STARR-seq lymphoblastoid silent region 592 [Gene]
  • LOC129930038:ATAC-STARR-seq lymphoblastoid silent region 593 [Gene]
  • LOC129930040:ATAC-STARR-seq lymphoblastoid silent region 596 [Gene]
  • LOC129930041:ATAC-STARR-seq lymphoblastoid silent region 597 [Gene]
  • LOC129930042:ATAC-STARR-seq lymphoblastoid silent region 598 [Gene]
  • LOC129930046:ATAC-STARR-seq lymphoblastoid silent region 599 [Gene]
  • LOC129930047:ATAC-STARR-seq lymphoblastoid silent region 600 [Gene]
  • LOC129930050:ATAC-STARR-seq lymphoblastoid silent region 601 [Gene]
  • LOC129930052:ATAC-STARR-seq lymphoblastoid silent region 603 [Gene]
  • LOC129930055:ATAC-STARR-seq lymphoblastoid silent region 607 [Gene]
  • LOC129930056:ATAC-STARR-seq lymphoblastoid silent region 608 [Gene]
  • LOC129930061:ATAC-STARR-seq lymphoblastoid silent region 609 [Gene]
  • LOC129930062:ATAC-STARR-seq lymphoblastoid silent region 610 [Gene]
  • LOC129930063:ATAC-STARR-seq lymphoblastoid silent region 611 [Gene]
  • LOC129930064:ATAC-STARR-seq lymphoblastoid silent region 612 [Gene]
  • LOC129930065:ATAC-STARR-seq lymphoblastoid silent region 613 [Gene]
  • LOC129930069:ATAC-STARR-seq lymphoblastoid silent region 615 [Gene]
  • LOC129930071:ATAC-STARR-seq lymphoblastoid silent region 616 [Gene]
  • LOC129930072:ATAC-STARR-seq lymphoblastoid silent region 617 [Gene]
  • LOC129930073:ATAC-STARR-seq lymphoblastoid silent region 618 [Gene]
  • LOC129930074:ATAC-STARR-seq lymphoblastoid silent region 619 [Gene]
  • LOC129930075:ATAC-STARR-seq lymphoblastoid silent region 620 [Gene]
  • LOC129930076:ATAC-STARR-seq lymphoblastoid silent region 621 [Gene]
  • LOC129930077:ATAC-STARR-seq lymphoblastoid silent region 622 [Gene]
  • LOC126805680:BRD4-independent group 4 enhancer GRCh37_chr1:31424624-31425823 [Gene]
  • LOC126805687:BRD4-independent group 4 enhancer GRCh37_chr1:32687227-32688426 [Gene]
  • LOC126805688:BRD4-independent group 4 enhancer GRCh37_chr1:33251929-33253128 [Gene]
  • LOC126805689:BRD4-independent group 4 enhancer GRCh37_chr1:33446166-33447365 [Gene]
  • LOC126805690:BRD4-independent group 4 enhancer GRCh37_chr1:33592415-33593614 [Gene]
  • BSDC1:BSD domain containing 1 [Gene - OMIM - HGNC]
  • LOC126805683:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:31972634-31973833 [Gene]
  • LOC126805685:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:32145564-32146763 [Gene]
  • LOC126805686:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:32681346-32682545 [Gene]
  • LOC115801422:CRISPRi-validated cis-regulatory element chr1.4289 [Gene]
  • LOC115801423:CRISPRi-validated cis-regulatory element chr1.4291 [Gene]
  • IQCC:IQ motif containing C [Gene - HGNC]
  • KHDRBS1:KH RNA binding domain containing, signal transduction associated 1 [Gene - OMIM - HGNC]
  • LCK:LCK proto-oncogene, Src family tyrosine kinase [Gene - OMIM - HGNC]
  • MARCKSL1:MARCKS like 1 [Gene - OMIM - HGNC]
  • LOC129388488:MPRA-validated peak156 silencer [Gene]
  • LOC129388489:MPRA-validated peak162 silencer [Gene]
  • LOC129388490:MPRA-validated peak165 silencer [Gene]
  • LOC129388491:MPRA-validated peak166 silencer [Gene]
  • LOC129388492:MPRA-validated peak168 silencer [Gene]
  • LOC110594336:MS1 minisatellite repeat instability region [Gene]
  • NHSL3:NHS like 3 [Gene - HGNC]
  • LOC132088695:Neanderthal introgressed variant-containing enhancer experimental_6796 [Gene]
  • LOC132088696:Neanderthal introgressed variant-containing enhancer experimental_6822 [Gene]
  • LOC132088697:Neanderthal introgressed variant-containing enhancer experimental_6850 [Gene]
  • LOC132088698:Neanderthal introgressed variant-containing enhancer experimental_6868 [Gene]
  • LOC132088699:Neanderthal introgressed variant-containing enhancer experimental_6918 [Gene]
  • LOC132090660:Neanderthal introgressed variant-containing enhancer experimental_6924 [Gene]
  • LOC132088700:Neanderthal introgressed variant-containing enhancer experimental_7027 [Gene]
  • LOC132090661:Neanderthal introgressed variant-containing enhancer experimental_7034 [Gene]
  • LOC132088701:Neanderthal introgressed variant-containing enhancer experimental_7044 [Gene]
  • LOC132088702:Neanderthal introgressed variant-containing enhancer experimental_7054 [Gene]
  • LOC132088703:Neanderthal introgressed variant-containing enhancer experimental_7061 [Gene]
  • LOC126805681:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:31926120-31927319 [Gene]
  • LOC126805682:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:31943609-31944808 [Gene]
  • LOC126805684:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:32070860-32072059 [Gene]
  • PEF1-AS1:PEF1 and COL16A1 antisense RNA 1 [Gene - HGNC]
  • PHC2-AS1:PHC2 antisense RNA 1 [Gene - HGNC]
  • LOC108254669:PTP4A2-KHDRBS1 intergenic CAGE-defined high expression enhancer [Gene]
  • RBBP4:RB binding protein 4, chromatin remodeling factor [Gene - OMIM - HGNC]
  • S100PBP:S100P binding protein [Gene - OMIM - HGNC]
  • SPOCD1:SPOC domain containing 1 [Gene - OMIM - HGNC]
  • LOC122056822:Sharpr-MPRA regulatory region 1173 [Gene]
  • LOC122056821:Sharpr-MPRA regulatory region 1191 [Gene]
  • LOC112577582:Sharpr-MPRA regulatory region 11964 [Gene]
  • LOC122056820:Sharpr-MPRA regulatory region 12480 [Gene]
  • LOC122056824:Sharpr-MPRA regulatory region 13821 [Gene]
  • LOC122056830:Sharpr-MPRA regulatory region 14076 [Gene]
  • LOC122056827:Sharpr-MPRA regulatory region 14090 [Gene]
  • LOC121725011:Sharpr-MPRA regulatory region 15304 [Gene]
  • LOC112577583:Sharpr-MPRA regulatory region 15509 [Gene]
  • LOC122056832:Sharpr-MPRA regulatory region 15696 [Gene]
  • LOC122056826:Sharpr-MPRA regulatory region 2178 [Gene]
  • LOC122056831:Sharpr-MPRA regulatory region 2185 [Gene]
  • LOC121725010:Sharpr-MPRA regulatory region 2329 [Gene]
  • LOC122056825:Sharpr-MPRA regulatory region 3310 [Gene]
  • LOC120893128:Sharpr-MPRA regulatory region 4113 [Gene]
  • LOC120893127:Sharpr-MPRA regulatory region 4114 [Gene]
  • LOC121725009:Sharpr-MPRA regulatory region 5533 [Gene]
  • LOC122056829:Sharpr-MPRA regulatory region 5670 [Gene]
  • LOC122056823:Sharpr-MPRA regulatory region 7682 [Gene]
  • LOC122056828:Sharpr-MPRA regulatory region 7843 [Gene]
  • LOC112577584:Sharpr-MPRA regulatory region 8469 [Gene]
  • LOC110120729:VISTA enhancer hs645 [Gene]
  • AK2:adenylate kinase 2 [Gene - OMIM - HGNC]
  • ADGRB2:adhesion G protein-coupled receptor B2 [Gene - OMIM - HGNC]
  • A3GALT2:alpha 1,3-galactosyltransferase 2 [Gene - OMIM - HGNC]
  • AZIN2:antizyme inhibitor 2 [Gene - OMIM - HGNC]
  • CCDC28B:coiled-coil domain containing 28B [Gene - OMIM - HGNC]
  • COL16A1:collagen type XVI alpha 1 chain [Gene - OMIM - HGNC]
  • DCDC2B:doublecortin domain containing 2B [Gene - HGNC]
  • EIF3I:eukaryotic translation initiation factor 3 subunit I [Gene - OMIM - HGNC]
  • FAM167B:family with sequence similarity 167 member B [Gene - HGNC]
  • FAM229A:family with sequence similarity 229 member A [Gene - HGNC]
  • FABP3:fatty acid binding protein 3 [Gene - OMIM - HGNC]
  • FNDC5:fibronectin type III domain containing 5 [Gene - OMIM - HGNC]
  • HPCA:hippocalcin [Gene - OMIM - HGNC]
  • HDAC1:histone deacetylase 1 [Gene - OMIM - HGNC]
  • HCRTR1:hypocretin receptor 1 [Gene - OMIM - HGNC]
  • KPNA6:karyopherin subunit alpha 6 [Gene - OMIM - HGNC]
  • LINC01226:long intergenic non-protein coding RNA 1226 [Gene - HGNC]
  • LINC01778:long intergenic non-protein coding RNA 1778 [Gene - HGNC]
  • MIR3605:microRNA 3605 [Gene - HGNC]
  • MIR4254:microRNA 4254 [Gene - HGNC]
  • MIR5585:microRNA 5585 [Gene - HGNC]
  • PEF1:penta-EF-hand domain containing 1 [Gene - OMIM - HGNC]
  • PHC2:polyhomeotic homolog 2 [Gene - OMIM - HGNC]
  • PTP4A2:protein tyrosine phosphatase 4A2 [Gene - OMIM - HGNC]
  • PUM1:pumilio RNA binding family member 1 [Gene - OMIM - HGNC]
  • RNF19B:ring finger protein 19B [Gene - OMIM - HGNC]
  • SERINC2:serine incorporator 2 [Gene - OMIM - HGNC]
  • SNRNP40:small nuclear ribonucleoprotein U5 subunit 40 [Gene - OMIM - HGNC]
  • SNORD103A:small nucleolar RNA, C/D box 103A [Gene - HGNC]
  • SNORD103B:small nucleolar RNA, C/D box 103B [Gene - HGNC]
  • SNORD103C:small nucleolar RNA, C/D box 103C [Gene - HGNC]
  • NKAIN1:sodium/potassium transporting ATPase interacting 1 [Gene - OMIM - HGNC]
  • SYNC:syncoilin, intermediate filament protein [Gene - OMIM - HGNC]
  • SDC3:syndecan 3 [Gene - OMIM - HGNC]
  • TXLNA:taxilin alpha [Gene - OMIM - HGNC]
  • TSSK3:testis specific serine kinase 3 [Gene - OMIM - HGNC]
  • TMEM234:transmembrane protein 234 [Gene - OMIM - HGNC]
  • TMEM39B:transmembrane protein 39B [Gene - HGNC]
  • TMEM54:transmembrane protein 54 [Gene - HGNC]
  • TRIM62:tripartite motif containing 62 [Gene - OMIM - HGNC]
  • TINAGL1:tubulointerstitial nephritis antigen like 1 [Gene - OMIM - HGNC]
  • YARS1:tyrosyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • LOC105378626:uncharacterized LOC105378626 [Gene]
  • LOC128031832:uncharacterized LOC128031832 [Gene]
  • LOC400748:uncharacterized LOC400748 [Gene]
  • ZCCHC17:zinc finger CCHC-type containing 17 [Gene - OMIM - HGNC]
  • ZBTB8OS:zinc finger and BTB domain containing 8 opposite strand [Gene - OMIM - HGNC]
  • ZBTB8A:zinc finger and BTB domain containing 8A [Gene - OMIM - HGNC]
  • ZBTB8B:zinc finger and BTB domain containing 8B [Gene - HGNC]
  • ZNF362:zinc finger protein 362 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1p35.2-35.1
Genomic location:
Preferred name:
GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1
HGVS:
  • NC_000001.11:g.(?_30766758)_(33359428_?)del
  • NC_000001.10:g.(?_31239605)_(33825029_?)del
  • NC_000001.9:g.(?_31012192)_(33597616_?)del
Links:
dbVar: nssv577199; dbVar: nsv532461
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
SCV000081165ISCA site 17

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		not providedclinical 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 17, SCV000081165.4

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

Last Updated: Oct 14, 2023