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Variant : CV160927 (GRCh38/hg38 Xq21.31-22.1(chrX:91225162-101026774)x1) Homo sapiens

Symbol: CV160927
Name: GRCh38/hg38 Xq21.31-22.1(chrX:91225162-101026774)x1
Condition: See cases [RCV000139915]
Clinical Significance: pathogenic
Last Evaluated: 12/10/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ARL13A   CSTF2   DIAPH2   DIAPH2-AS1   FAM133A   MIR548M   NAP1L3   NOX1   PABPC5   PABPC5-AS1   PCDH11X   PCDH19   RPA4   SRPX2   SYTL4   TNMD   TRMT2B   TSPAN6   XKRX  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_91225162)_(101026774_?)del
NC_000023.10:g.(?_90480161)_(100281763_?)del
NC_000023.9:g.(?_90366817)_(100168419_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X91,225,162 - 101,026,774CLINVAR
GRCh37X90,480,161 - 100,281,763CLINVAR
Build 36X90,366,817 - 100,168,419CLINVAR
Cytogenetic MapXXq21.31-22.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9487445
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.