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Variant : CV160588 (GRCh38/hg38 Xq21.1-21.31(chrX:80722314-92152619)x0) Homo sapiens

Symbol: CV160588
Name: GRCh38/hg38 Xq21.1-21.31(chrX:80722314-92152619)x0
Condition: See cases [RCV000139635]
Clinical Significance: pathogenic
Last Evaluated: 06/25/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: APOOL   BRWD3   CHM   CPXCR1   CYLC1   DACH2   HDX   HMGN5   KLHL4   MIR1321   MIR361   MIR548I4   PABPC5   PABPC5-AS1   PCDH11X   POF1B   POU3F4   RPS6KA6   SATL1   SH3BGRL   TGIF2LX   ZNF711  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_80722314)_(92152619_?)del
NC_000023.10:g.(?_79977813)_(91407618_?)del
NC_000023.9:g.(?_79864469)_(91294274_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X80,722,314 - 92,152,619CLINVAR
GRCh37X79,977,813 - 91,407,618CLINVAR
Build 36X79,864,469 - 91,294,274CLINVAR
Cytogenetic MapXXq21.1-21.31CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9487166
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-09-10
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.