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Variant : CV159884 (GRCh38/hg38 Xq23(chrX:112920714-116408703)x0) Homo sapiens

Symbol: CV159884
Name: GRCh38/hg38 Xq23(chrX:112920714-116408703)x0
Condition: See cases [RCV000139029]
Clinical Significance: likely pathogenic
Last Evaluated: 07/09/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AGTR2   DANT1   DANT2   HTR2C   IL13RA2   LRCH2   LUZP4   MIR1264   MIR1298   MIR1911   MIR1912   MIR448   MIR764   PLS3   PLS3-AS1   RBMXL3   SNORA35   SNORA35B   XACT  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_112920714)_(116408703_?)del
NC_000023.10:g.(?_112163942)_(115539863_?)del
NC_000023.9:g.(?_112050598)_(115453891_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X112,920,714 - 116,408,703CLINVAR
GRCh37X112,163,942 - 115,539,863CLINVAR
Build 36X112,050,598 - 115,453,891CLINVAR
Cytogenetic MapXXq23CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9486561
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-09-06
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.