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GRCh38/hg38 Xq28(chrX:154559495-154736598)x2 AND See cases

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 30, 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:
RCV000140472.3

Allele description [Variation Report for GRCh38/hg38 Xq28(chrX:154559495-154736598)x2]

GRCh38/hg38 Xq28(chrX:154559495-154736598)x2

Genes:
  • LOC130068882:ATAC-STARR-seq lymphoblastoid silent region 21115 [Gene]
  • GAB3:GRB2 associated binding protein 3 [Gene - OMIM - HGNC]
  • LOC107988022:IKBKG downstream recombination region [Gene]
  • LOC107988024:IKBKGP1 recombination region [Gene]
  • LOC107988025:IKBKGP1 upstream recombination region [Gene]
  • LOC113875015:Sharpr-MPRA regulatory region 12525 [Gene]
  • LOC125467794:Sharpr-MPRA regulatory region 13577 [Gene]
  • CTAG1A:cancer/testis antigen 1A [Gene - OMIM - HGNC]
  • CTAG1B:cancer/testis antigen 1B [Gene - OMIM - HGNC]
  • CTAG2:cancer/testis antigen 2 [Gene - OMIM - HGNC]
  • FAM223A:family with sequence similarity 223 member A [Gene - HGNC]
  • FAM223B:family with sequence similarity 223 member B [Gene - HGNC]
  • IKBKG:inhibitor of nuclear factor kappa B kinase regulatory subunit gamma [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
GRCh38/hg38 Xq28(chrX:154559495-154736598)x2
HGVS:
  • NC_000023.11:g.(?_154559495)_(154736598_?)dup
  • NC_000023.10:g.(?_153787710)_(153964873_?)dup
Links:
dbVar: nssv1609727; dbVar: nsv931677
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
SCV000181174GeneDx
no assertion criteria provided
Benign
(Apr 30, 2011) 		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, SCV000181174.3

#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