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Variant : CV165425 (GRCh38/hg38 Xq22.1(chrX:100861647-101426591)x2) Homo sapiens

Symbol: CV165425
Name: GRCh38/hg38 Xq22.1(chrX:100861647-101426591)x2
Condition: See cases [RCV000143738]
Clinical Significance: uncertain significance
Last Evaluated: 03/10/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ARL13A   ARMCX4   BTK   CENPI   DRP2   GLA   HNRNPH2   NOX1   RPL36A   RPL36A-HNRNPH2   TAF7L   TIMM8A   TMEM35A   TRMT2B   XKRX  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_100861647)_(101426591_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38X100,861,647 - 101,426,591CLINVAR
GRCh37X100,116,636 - 100,681,579CLINVAR
Build 36X100,003,292 - 100,568,235CLINVAR
Cytogenetic MapXXq22.1CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9491336
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE


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