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GRCh37/hg19 13q33.3-34(chr13:109151651-115107733)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 15, 2015
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:
RCV000512069.3

Allele description [Variation Report for GRCh37/hg19 13q33.3-34(chr13:109151651-115107733)x1]

GRCh37/hg19 13q33.3-34(chr13:109151651-115107733)x1

Genes:
  • ADPRHL1:ADP-ribosylhydrolase like 1 [Gene - OMIM - HGNC]
  • ANKRD10-IT1:ANKRD10 intronic transcript 1 [Gene - HGNC]
  • ATP11AUN:ATP11A upstream neighbor lncRNA [Gene - HGNC]
  • ATP4B:ATPase H+/K+ transporting subunit beta [Gene - OMIM - HGNC]
  • ATP11A:ATPase phospholipid transporting 11A [Gene - OMIM - HGNC]
  • MCF2L:MCF.2 cell line derived transforming sequence like [Gene - OMIM - HGNC]
  • NAXD:NAD(P)HX dehydratase [Gene - OMIM - HGNC]
  • PCID2:PCI domain containing 2 [Gene - OMIM - HGNC]
  • RAB20:RAB20, member RAS oncogene family [Gene - HGNC]
  • RASA3:RAS p21 protein activator 3 [Gene - OMIM - HGNC]
  • ARHGEF7:Rho guanine nucleotide exchange factor 7 [Gene - OMIM - HGNC]
  • SOX1:SRY-box transcription factor 1 [Gene - OMIM - HGNC]
  • SWINGN:SWI/SNF complex interacting GAS6 enhancer non-coding RNA [Gene - HGNC]
  • UPF3A:UPF3A regulator of nonsense mediated mRNA decay [Gene - OMIM - HGNC]
  • ANKRD10:ankyrin repeat domain 10 [Gene - HGNC]
  • CDC16:cell division cycle 16 [Gene - OMIM - HGNC]
  • CHAMP1:chromosome alignment maintaining phosphoprotein 1 [Gene - OMIM - HGNC]
  • F7:coagulation factor VII [Gene - OMIM - HGNC]
  • F10:coagulation factor X [Gene - OMIM - HGNC]
  • COL4A1:collagen type IV alpha 1 chain [Gene - OMIM - HGNC]
  • COL4A2:collagen type IV alpha 2 chain [Gene - OMIM - HGNC]
  • CUL4A:cullin 4A [Gene - OMIM - HGNC]
  • CARS2:cysteinyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • DCUN1D2:defective in cullin neddylation 1 domain containing 2 [Gene - HGNC]
  • GAS6:growth arrest specific 6 [Gene - OMIM - HGNC]
  • GRTP1:growth hormone regulated TBC protein 1 [Gene - HGNC]
  • ING1:inhibitor of growth family member 1 [Gene - OMIM - HGNC]
  • IRS2:insulin receptor substrate 2 [Gene - OMIM - HGNC]
  • LINC00567:long intergenic non-protein coding RNA 567 [Gene - HGNC]
  • LAMP1:lysosomal associated membrane protein 1 [Gene - OMIM - HGNC]
  • MYO16:myosin XVI [Gene - OMIM - HGNC]
  • PROZ:protein Z, vitamin K dependent plasma glycoprotein [Gene - OMIM - HGNC]
  • SPACA7:sperm acrosome associated 7 [Gene - HGNC]
  • TEX29:testis expressed 29 [Gene - HGNC]
  • TFDP1:transcription factor Dp-1 [Gene - OMIM - HGNC]
  • TMCO3:transmembrane and coiled-coil domains 3 [Gene - OMIM - HGNC]
  • TMEM255B:transmembrane protein 255B [Gene - HGNC]
  • TUBGCP3:tubulin gamma complex component 3 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
13q33.3-34
Genomic location:
Chr13: 109151651 - 115107733 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 13q33.3-34(chr13:109151651-115107733)x1
HGVS:
NC_000013.10:g.(?_109151651)_(115107733_?)del
Links:
dbVar: nssv13638782; dbVar: nsv2769283
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
SCV000584385ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Jul 15, 2015) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot 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, SCV000584385.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024