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GRCh38/hg38 19p13.13(chr19:13034666-13283686)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 30, 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:
RCV000135352.3

Allele description [Variation Report for GRCh38/hg38 19p13.13(chr19:13034666-13283686)x1]

GRCh38/hg38 19p13.13(chr19:13034666-13283686)x1

Genes:
  • LOC130063687:ATAC-STARR-seq lymphoblastoid active region 14104 [Gene]
  • LOC130063688:ATAC-STARR-seq lymphoblastoid active region 14106 [Gene]
  • LOC130063690:ATAC-STARR-seq lymphoblastoid active region 14109 [Gene]
  • LOC130063691:ATAC-STARR-seq lymphoblastoid active region 14110 [Gene]
  • LOC130063695:ATAC-STARR-seq lymphoblastoid active region 14111 [Gene]
  • LOC130063698:ATAC-STARR-seq lymphoblastoid active region 14112 [Gene]
  • LOC130063699:ATAC-STARR-seq lymphoblastoid active region 14113 [Gene]
  • LOC130063701:ATAC-STARR-seq lymphoblastoid active region 14114 [Gene]
  • LOC130063702:ATAC-STARR-seq lymphoblastoid active region 14115 [Gene]
  • LOC130063705:ATAC-STARR-seq lymphoblastoid active region 14116 [Gene]
  • LOC130063706:ATAC-STARR-seq lymphoblastoid active region 14117 [Gene]
  • LOC130063707:ATAC-STARR-seq lymphoblastoid active region 14118 [Gene]
  • LOC130063708:ATAC-STARR-seq lymphoblastoid active region 14119 [Gene]
  • LOC130063709:ATAC-STARR-seq lymphoblastoid active region 14120 [Gene]
  • LOC130063711:ATAC-STARR-seq lymphoblastoid active region 14121 [Gene]
  • LOC130063712:ATAC-STARR-seq lymphoblastoid active region 14122 [Gene]
  • LOC130063713:ATAC-STARR-seq lymphoblastoid active region 14123 [Gene]
  • LOC130063714:ATAC-STARR-seq lymphoblastoid active region 14124 [Gene]
  • LOC130063715:ATAC-STARR-seq lymphoblastoid active region 14125 [Gene]
  • LOC130063718:ATAC-STARR-seq lymphoblastoid active region 14127 [Gene]
  • LOC130063721:ATAC-STARR-seq lymphoblastoid active region 14132 [Gene]
  • LOC130063686:ATAC-STARR-seq lymphoblastoid silent region 10189 [Gene]
  • LOC130063689:ATAC-STARR-seq lymphoblastoid silent region 10191 [Gene]
  • LOC130063692:ATAC-STARR-seq lymphoblastoid silent region 10192 [Gene]
  • LOC130063693:ATAC-STARR-seq lymphoblastoid silent region 10193 [Gene]
  • LOC130063694:ATAC-STARR-seq lymphoblastoid silent region 10194 [Gene]
  • LOC130063696:ATAC-STARR-seq lymphoblastoid silent region 10195 [Gene]
  • LOC130063697:ATAC-STARR-seq lymphoblastoid silent region 10196 [Gene]
  • LOC130063700:ATAC-STARR-seq lymphoblastoid silent region 10197 [Gene]
  • LOC130063703:ATAC-STARR-seq lymphoblastoid silent region 10199 [Gene]
  • LOC130063704:ATAC-STARR-seq lymphoblastoid silent region 10200 [Gene]
  • LOC130063710:ATAC-STARR-seq lymphoblastoid silent region 10201 [Gene]
  • LOC130063716:ATAC-STARR-seq lymphoblastoid silent region 10202 [Gene]
  • LOC130063717:ATAC-STARR-seq lymphoblastoid silent region 10203 [Gene]
  • LOC130063719:ATAC-STARR-seq lymphoblastoid silent region 10204 [Gene]
  • LOC130063720:ATAC-STARR-seq lymphoblastoid silent region 10205 [Gene]
  • LOC126862865:CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:13385818-13387017 [Gene]
  • LOC117125597:CRISPRi-FlowFISH-validated CALR, DNASE2 and KLF1 regulatory element [Gene]
  • LOC117125598:CRISPRi-FlowFISH-validated PRDX2 regulatory element 7 [Gene]
  • LYL1:LYL1 basic helix-loop-helix family member [Gene - OMIM - HGNC]
  • LOC126862864:MED14-independent group 3 enhancer GRCh37_chr19:13371552-13372751 [Gene]
  • LOC129391065:MPRA-validated peak3367 silencer [Gene]
  • LOC129391066:MPRA-validated peak3368 silencer [Gene]
  • LOC112543458:Sharpr-MPRA regulatory region 13602 [Gene]
  • LOC121852980:Sharpr-MPRA regulatory region 13658 [Gene]
  • LOC112543455:Sharpr-MPRA regulatory region 14065 [Gene]
  • LOC110121458:VISTA enhancer hs1900 [Gene]
  • LOC108663985:calcium voltage-gated channel subunit alpha1 A repeat instability region [Gene]
  • CACNA1A:calcium voltage-gated channel subunit alpha1 A [Gene - OMIM - HGNC]
  • IER2:immediate early response 2 [Gene - OMIM - HGNC]
  • NFIX:nuclear factor I X [Gene - OMIM - HGNC]
  • NACC1:nucleus accumbens associated 1 [Gene - OMIM - HGNC]
  • STX10:syntaxin 10 [Gene - OMIM - HGNC]
  • TRMT1:tRNA methyltransferase 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
19p13.13
Genomic location:
Preferred name:
GRCh38/hg38 19p13.13(chr19:13034666-13283686)x1
HGVS:
  • NC_000019.10:g.(?_13034666)_(13283686_?)del
  • NC_000019.8:g.(?_13006480)_(13255500_?)del
  • NC_000019.9:g.(?_13145480)_(13394500_?)del
Links:
dbVar: nssv585248; dbVar: nsv498531
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
SCV000175032GeneDx
no assertion criteria provided
Pathogenic
(Nov 30, 2010) 		not providedclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000175032.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023