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GRCh38/hg38 Xq28(chrX:149176559-149746198)x2 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 5, 2013
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:
RCV000141986.5

Allele description [Variation Report for GRCh38/hg38 Xq28(chrX:149176559-149746198)x2]

GRCh38/hg38 Xq28(chrX:149176559-149746198)x2

Genes:
  • LOC130068778:ATAC-STARR-seq lymphoblastoid active region 30012 [Gene]
  • LOC130068779:ATAC-STARR-seq lymphoblastoid active region 30013 [Gene]
  • LOC130068780:ATAC-STARR-seq lymphoblastoid active region 30014 [Gene]
  • LOC130068781:ATAC-STARR-seq lymphoblastoid active region 30015 [Gene]
  • LOC130068785:ATAC-STARR-seq lymphoblastoid active region 30016 [Gene]
  • LOC130068782:ATAC-STARR-seq lymphoblastoid silent region 21041 [Gene]
  • LOC130068783:ATAC-STARR-seq lymphoblastoid silent region 21042 [Gene]
  • LOC130068784:ATAC-STARR-seq lymphoblastoid silent region 21043 [Gene]
  • LOC130068786:ATAC-STARR-seq lymphoblastoid silent region 21044 [Gene]
  • LOC130068787:ATAC-STARR-seq lymphoblastoid silent region 21045 [Gene]
  • LOC126863342:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:148591963-148593162 [Gene]
  • EOLA1-DT:EOLA1 divergent transcript [Gene - HGNC]
  • LOC109396974:FRAXF repeat instability region [Gene]
  • LOC106050102:IDS recombination region [Gene]
  • LOC106050103:IDSP1 recombination region [Gene]
  • MAGEA11:MAGE family member A11 [Gene - OMIM - HGNC]
  • MAGEA9B:MAGE family member A9B [Gene - OMIM - HGNC]
  • LOC121627983:Sharpr-MPRA regulatory region 15241 [Gene]
  • LOC125467790:Sharpr-MPRA regulatory region 6851 [Gene]
  • EOLA1:endothelium and lymphocyte associated ASCH domain 1 [Gene - OMIM - HGNC]
  • HSFX2:heat shock transcription factor family, X-linked 2 [Gene - HGNC]
  • HSFX3:heat shock transcription factor family, X-linked member 3 [Gene - HGNC]
  • IDS:iduronate 2-sulfatase [Gene - OMIM - HGNC]
  • TMEM185A:transmembrane protein 185A [Gene - OMIM - HGNC]
  • LOC122319696:uncharacterized LOC122319696 [Gene]
Variant type:
copy number gain
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
GRCh38/hg38 Xq28(chrX:149176559-149746198)x2
HGVS:
  • NC_000023.11:g.(?_149176559)_(149746198_?)dup
  • NC_000023.10:g.(?_148258089)_(148827859_?)dup
Links:
dbVar: nssv3397293; dbVar: nsv995679
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
SCV000183106ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Aug 5, 2013) 		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, SCV000183106.4

#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