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GRCh38/hg38 1p34.1(chr1:43896056-44867736)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 22, 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:
RCV000142581.7

Allele description [Variation Report for GRCh38/hg38 1p34.1(chr1:43896056-44867736)x3]

GRCh38/hg38 1p34.1(chr1:43896056-44867736)x3

Genes:
  • 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]
  • LOC129930412:ATAC-STARR-seq lymphoblastoid active region 939 [Gene]
  • LOC129930413:ATAC-STARR-seq lymphoblastoid active region 941 [Gene]
  • LOC129930414:ATAC-STARR-seq lymphoblastoid active region 942 [Gene]
  • LOC129930419:ATAC-STARR-seq lymphoblastoid active region 943 [Gene]
  • LOC129930420:ATAC-STARR-seq lymphoblastoid active region 944 [Gene]
  • LOC129930422:ATAC-STARR-seq lymphoblastoid active region 945 [Gene]
  • LOC129930425:ATAC-STARR-seq lymphoblastoid active region 949 [Gene]
  • LOC129930426:ATAC-STARR-seq lymphoblastoid active region 953 [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]
  • LOC129930411:ATAC-STARR-seq lymphoblastoid silent region 810 [Gene]
  • LOC129930415:ATAC-STARR-seq lymphoblastoid silent region 813 [Gene]
  • LOC129930416:ATAC-STARR-seq lymphoblastoid silent region 814 [Gene]
  • LOC129930417:ATAC-STARR-seq lymphoblastoid silent region 815 [Gene]
  • LOC129930418:ATAC-STARR-seq lymphoblastoid silent region 816 [Gene]
  • LOC129930421:ATAC-STARR-seq lymphoblastoid silent region 817 [Gene]
  • LOC129930423:ATAC-STARR-seq lymphoblastoid silent region 818 [Gene]
  • LOC129930424:ATAC-STARR-seq lymphoblastoid silent region 820 [Gene]
  • LOC129930427:ATAC-STARR-seq lymphoblastoid silent region 821 [Gene]
  • LOC129930428:ATAC-STARR-seq lymphoblastoid silent region 822 [Gene]
  • ATP6V0B:ATPase H+ transporting V0 subunit b [Gene - OMIM - HGNC]
  • BTBD19:BTB domain containing 19 [Gene - HGNC]
  • LOC126805725:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:44426574-44427773 [Gene]
  • LOC126805726:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:44437355-44438554 [Gene]
  • DMAP1:DNA methyltransferase 1 associated protein 1 [Gene - OMIM - HGNC]
  • ERI3:ERI1 exoribonuclease family member 3 [Gene - OMIM - HGNC]
  • ERI3-IT1:ERI3 intronic transcript 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]
  • LOC129388505:MPRA-validated peak196 silencer [Gene]
  • LOC132088721:Neanderthal introgressed variant-containing enhancer experimental_8150 [Gene]
  • LOC132088722:Neanderthal introgressed variant-containing enhancer experimental_8167 [Gene]
  • LOC126805727:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:45272786-45273985 [Gene]
  • RNU5D-1:RNA, U5D small nuclear 1 [Gene - OMIM - HGNC]
  • RNU5F-1:RNA, U5F small nuclear 1 [Gene - OMIM - HGNC]
  • ST3GAL3:ST3 beta-galactoside alpha-2,3-sialyltransferase 3 [Gene - OMIM - HGNC]
  • LOC112590792:Sharpr-MPRA regulatory region 11119 [Gene]
  • LOC112590793:Sharpr-MPRA regulatory region 11322 [Gene]
  • LOC122056856:Sharpr-MPRA regulatory region 12642 [Gene]
  • LOC122056855:Sharpr-MPRA regulatory region 12667 [Gene]
  • LOC122056854:Sharpr-MPRA regulatory region 15201 [Gene]
  • LOC112590794:Sharpr-MPRA regulatory region 23 [Gene]
  • LOC112590795:Sharpr-MPRA regulatory region 3045 [Gene]
  • LOC110121214:VISTA enhancer hs1857 [Gene]
  • LOC110120642:VISTA enhancer hs277 [Gene]
  • LOC110120644:VISTA enhancer hs280 [Gene]
  • ARMH1:armadillo like helical domain containing 1 [Gene - HGNC]
  • ARTN:artemin [Gene - OMIM - HGNC]
  • BEST4:bestrophin 4 [Gene - OMIM - HGNC]
  • B4GALT2:beta-1,4-galactosyltransferase 2 [Gene - OMIM - HGNC]
  • CCDC24:coiled-coil domain containing 24 [Gene - HGNC]
  • DPH2:diphthamide biosynthesis 2 [Gene - OMIM - HGNC]
  • DYNLT4:dynein light chain Tctex-type 4 [Gene - OMIM - HGNC]
  • EIF2B3:eukaryotic translation initiation factor 2B subunit gamma [Gene - OMIM - HGNC]
  • IPO13:importin 13 [Gene - OMIM - HGNC]
  • KIF2C:kinesin family member 2C [Gene - OMIM - HGNC]
  • MIR5584:microRNA 5584 [Gene - HGNC]
  • PTCH2:patched 2 [Gene - OMIM - HGNC]
  • PLK3:polo like kinase 3 [Gene - OMIM - HGNC]
  • RPS8:ribosomal protein S8 [Gene - OMIM - HGNC]
  • RNF220:ring finger protein 220 [Gene - OMIM - HGNC]
  • SNORD145:small nucleolar RNA, C/D box 145 [Gene - HGNC]
  • SNORD160:small nucleolar RNA, C/D box 160 [Gene - HGNC]
  • SNORD38A:small nucleolar RNA, C/D box 38A [Gene - HGNC]
  • SNORD38B:small nucleolar RNA, C/D box 38B [Gene - HGNC]
  • SNORD46:small nucleolar RNA, C/D box 46 [Gene - HGNC]
  • SNORD55:small nucleolar RNA, C/D box 55 [Gene - HGNC]
  • SNORA110:small nucleolar RNA, H/ACA box 110 [Gene - HGNC]
  • SLC6A9:solute carrier family 6 member 9 [Gene - OMIM - HGNC]
  • TMEM53:transmembrane protein 53 [Gene - OMIM - HGNC]
  • LOC101929609:uncharacterized LOC101929609 [Gene]
Variant type:
copy number gain
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
GRCh38/hg38 1p34.1(chr1:43896056-44867736)x3
HGVS:
  • NC_000001.11:g.(?_43896056)_(44867736_?)dup
  • NC_000001.10:g.(?_44361728)_(45333408_?)dup
  • NC_000001.9:g.(?_44134315)_(45105995_?)dup
Links:
dbVar: nssv582691; dbVar: nsv533037
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
SCV000175762ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Dec 22, 2010) 		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

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, SCV000175762.4

#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