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GRCh38/hg38 Xq28(chrX:155348480-156003242)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 14, 2012
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:
RCV000138670.6

Allele description [Variation Report for GRCh38/hg38 Xq28(chrX:155348480-156003242)x3]

GRCh38/hg38 Xq28(chrX:155348480-156003242)x3

Genes:
  • LOC130068898:ATAC-STARR-seq lymphoblastoid active region 30078 [Gene]
  • H2AB2:H2A.B variant histone 2 [Gene - OMIM - HGNC]
  • H2AB3:H2A.B variant histone 3 [Gene - OMIM - HGNC]
  • TMLHE-AS1:TMLHE antisense RNA 1 [Gene - HGNC]
  • F8A2:coagulation factor VIII associated 2 [Gene - HGNC]
  • F8A3:coagulation factor VIII associated 3 [Gene - HGNC]
  • LOC106146151:int22h-2 recombination region [Gene]
  • LOC106146152:int22h-3 recombination region [Gene]
  • IL9R:interleukin 9 receptor [Gene - OMIM - HGNC]
  • LOC107522039:meiotic recombination hotspot PAR2 [Gene]
  • LOC107838685:meiotic recombination hotspot PAR2A [Gene]
  • MIR1184-2:microRNA 1184-2 [Gene - HGNC]
  • MIR1184-3:microRNA 1184-3 [Gene - HGNC]
  • SPRY3:sprouty RTK signaling antagonist 3 [Gene - OMIM - HGNC]
  • TMLHE:trimethyllysine hydroxylase, epsilon [Gene - OMIM - HGNC]
  • LOC101927830:uncharacterized LOC101927830 [Gene]
  • VAMP7:vesicle associated membrane protein 7 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
GRCh38/hg38 Xq28(chrX:155348480-156003242)x3
HGVS:
  • NC_000023.11:g.(?_155348480)_(156003242_?)dup
  • NC_000023.10:g.(?_154577793)_(155232907_?)dup
  • NC_000023.9:g.(?_154230987)_(154886101_?)dup
Links:
dbVar: nssv1601729; dbVar: nsv915940
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
SCV000179055ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(May 14, 2012) 		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, SCV000179055.4

#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