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Variant : CV164989 (GRCh38/hg38 Xq13.1(chrX:71071787-71777197)x2) Homo sapiens

Symbol: CV164989
Name: GRCh38/hg38 Xq13.1(chrX:71071787-71777197)x2
Condition: See cases [RCV000143302]
Clinical Significance: uncertain significance
Last Evaluated: 04/09/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: CXCR3   CXorf49   CXorf49B   CXorf65   FOXO4   GCNA   GJB1   IL2RG   ITGB1BP2   LINC00891   MED12   NLGN3   NONO   OGT   SNX12   TAF1   ZMYM3  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_71071787)_(71777197_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38X71,071,787 - 71,777,197CLINVAR
GRCh37X70,291,637 - 70,997,047CLINVAR
Build 36X70,208,362 - 70,913,772CLINVAR
Cytogenetic MapXXq13.1CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9490900
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.