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GRCh38/hg38 Xp21.2-21.1(chrX:30093911-34060667)x0 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 22, 2010
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:
RCV000136548.5

Allele description [Variation Report for GRCh38/hg38 Xp21.2-21.1(chrX:30093911-34060667)x0]

GRCh38/hg38 Xp21.2-21.1(chrX:30093911-34060667)x0

Genes:
  • LOC130068074:ATAC-STARR-seq lymphoblastoid active region 29508 [Gene]
  • LOC130068076:ATAC-STARR-seq lymphoblastoid active region 29509 [Gene]
  • LOC130068080:ATAC-STARR-seq lymphoblastoid active region 29510 [Gene]
  • LOC130068081:ATAC-STARR-seq lymphoblastoid active region 29511 [Gene]
  • LOC130068082:ATAC-STARR-seq lymphoblastoid active region 29512 [Gene]
  • LOC130068083:ATAC-STARR-seq lymphoblastoid active region 29513 [Gene]
  • LOC130068085:ATAC-STARR-seq lymphoblastoid active region 29514 [Gene]
  • LOC130068088:ATAC-STARR-seq lymphoblastoid active region 29515 [Gene]
  • LOC130068089:ATAC-STARR-seq lymphoblastoid active region 29516 [Gene]
  • LOC130068075:ATAC-STARR-seq lymphoblastoid silent region 20724 [Gene]
  • LOC130068077:ATAC-STARR-seq lymphoblastoid silent region 20725 [Gene]
  • LOC130068078:ATAC-STARR-seq lymphoblastoid silent region 20726 [Gene]
  • LOC130068079:ATAC-STARR-seq lymphoblastoid silent region 20727 [Gene]
  • LOC130068084:ATAC-STARR-seq lymphoblastoid silent region 20728 [Gene]
  • LOC130068086:ATAC-STARR-seq lymphoblastoid silent region 20729 [Gene]
  • LOC130068087:ATAC-STARR-seq lymphoblastoid silent region 20730 [Gene]
  • LOC116309150:CRISPRi-validated cis-regulatory element chrX.505 [Gene]
  • GK-AS1:GK antisense RNA 1 [Gene - HGNC]
  • MAGEB1:MAGE family member B1 [Gene - OMIM - HGNC]
  • MAGEB2:MAGE family member B2 [Gene - OMIM - HGNC]
  • MAGEB3:MAGE family member B3 [Gene - OMIM - HGNC]
  • MAGEB4:MAGE family member B4 [Gene - OMIM - HGNC]
  • LOC129391296:MPRA-validated peak7373 silencer [Gene]
  • LOC129391297:MPRA-validated peak7374 silencer [Gene]
  • LOC108410393:NR0B1 5' regulatory region [Gene]
  • LOC126863236:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:30232864-30234063 [Gene]
  • LOC116309149:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:30301194-30302393 [Gene]
  • LOC125446277:Sharpr-MPRA regulatory region 11226 [Gene]
  • LOC113875019:Sharpr-MPRA regulatory region 11934 [Gene]
  • LOC121627963:Sharpr-MPRA regulatory region 5644 [Gene]
  • TAB3-AS1:TAB3 antisense RNA 1 [Gene - HGNC]
  • TAB3:TGF-beta activated kinase 1 (MAP3K7) binding protein 3 [Gene - OMIM - HGNC]
  • TASL:TLR adaptor interacting with endolysosomal SLC15A4 [Gene - OMIM - HGNC]
  • DMD:dystrophin [Gene - OMIM - HGNC]
  • FTHL17:ferritin heavy chain like 17 [Gene - OMIM - HGNC]
  • GK:glycerol kinase [Gene - OMIM - HGNC]
  • MIR3915:microRNA 3915 [Gene - HGNC]
  • MIR548F5:microRNA 548f-5 [Gene - HGNC]
  • NR0B1:nuclear receptor subfamily 0 group B member 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
Xp21.2-21.1
Genomic location:
Preferred name:
GRCh38/hg38 Xp21.2-21.1(chrX:30093911-34060667)x0
HGVS:
  • NC_000023.11:g.(?_30093911)_(34060667_?)del
  • NC_000023.10:g.(?_30112028)_(34078784_?)del
  • NC_000023.9:g.(?_30021949)_(33988705_?)del
Links:
dbVar: nssv583005; dbVar: nsv533859
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
SCV000176630ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Dec 22, 2010) 		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, SCV000176630.4

#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