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GRCh38/hg38 Xq12(chrX:65901792-66733457)x2 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 16, 2011
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:
RCV000141544.4

Allele description [Variation Report for GRCh38/hg38 Xq12(chrX:65901792-66733457)x2]

GRCh38/hg38 Xq12(chrX:65901792-66733457)x2

Genes:
  • LOC130068383:ATAC-STARR-seq lymphoblastoid active region 29718 [Gene]
  • LOC130068384:ATAC-STARR-seq lymphoblastoid active region 29719 [Gene]
  • LOC130068385:ATAC-STARR-seq lymphoblastoid active region 29720 [Gene]
  • LOC130068386:ATAC-STARR-seq lymphoblastoid active region 29721 [Gene]
  • LOC130068388:ATAC-STARR-seq lymphoblastoid active region 29722 [Gene]
  • LOC130068389:ATAC-STARR-seq lymphoblastoid active region 29723 [Gene]
  • LOC130068390:ATAC-STARR-seq lymphoblastoid active region 29724 [Gene]
  • LOC130068387:ATAC-STARR-seq lymphoblastoid silent region 20884 [Gene]
  • LOC126863268:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:65252367-65253566 [Gene]
  • LOC126863269:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:65855165-65856364 [Gene]
  • MIR223HG:MIR223 host gene [Gene - HGNC]
  • LOC126863267:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:65151966-65153165 [Gene]
  • LOC126863270:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:65937581-65938780 [Gene]
  • LOC125467760:Sharpr-MPRA regulatory region 12317 [Gene]
  • LOC113875035:Sharpr-MPRA regulatory region 4431 [Gene]
  • VSIG4:V-set and immunoglobulin domain containing 4 [Gene - OMIM - HGNC]
  • EDA2R:ectodysplasin A2 receptor [Gene - OMIM - HGNC]
  • HEPH:hephaestin [Gene - OMIM - HGNC]
  • MIR223:microRNA 223 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
Xq12
Genomic location:
Preferred name:
GRCh38/hg38 Xq12(chrX:65901792-66733457)x2
HGVS:
  • NC_000023.11:g.(?_65901792)_(66733457_?)dup
  • NC_000023.10:g.(?_65121634)_(65953299_?)dup
  • NC_000023.9:g.(?_65038359)_(65870024_?)dup
Links:
dbVar: nssv3396044; dbVar: nsv995042
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
SCV000182461ISCA site 17

See additional submitters

no assertion criteria provided
Uncertain significance
(Sep 16, 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

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 17, SCV000182461.3

#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