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Variant : CV163252 (GRCh38/hg38 Xq12-13.1(chrX:68277324-68861722)x1) Homo sapiens

Symbol: CV163252
Name: GRCh38/hg38 Xq12-13.1(chrX:68277324-68861722)x1
Condition: See cases [RCV000141866]
Clinical Significance: pathogenic
Last Evaluated: 06/25/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: EFNB1   OPHN1   STARD8   YIPF6  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_68277324)_(68861722_?)del
NC_000023.10:g.(?_67497166)_(68081565_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X68,277,324 - 68,861,722CLINVAR
GRCh37X67,497,166 - 68,081,565CLINVAR
Build 36X67,413,891 - 67,998,290CLINVAR
Cytogenetic MapXXq12-13.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9489389
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-17
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.