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Variant : CV163352 (GRCh38/hg38 Xp22.33-22.2(chrX:251879-9798930)x1) Homo sapiens

Symbol: CV163352
Name: GRCh38/hg38 Xp22.33-22.2(chrX:251879-9798930)x1
Condition: See cases [RCV000141931]
Clinical Significance: pathogenic
Last Evaluated: 07/16/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AKAP17A   ANOS1   ARSD   ARSD-AS1   ARSF   ARSH   ARSL   ASMT   ASMTL   ASMTL-AS1   CD99   CRLF2   CSF2RA   DHRSX   FAM9A   FAM9B   GPR143   GTPBP6   GYG2   IL3RA   LINC00102   LINC00106   LINC00685   LINC01546   MIR3690   MIR4767   MIR4770   MIR6089   MIR651   MXRA5   NLGN4X   P2RY8   PLCXD1   PNPLA4   PPP2R3B   PRKX   PRKX-AS1   PUDP   SHOX   SHROOM2   SLC25A6   SNORA48B   STS   TBL1X   TRI-GAT1-1   TRI-GAT1-2   TRI-GAT1-3   VCX   VCX2   VCX3A   VCX3B   XG   ZBED1  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_251879)_(9798930_?)del
Human AssemblyChrPosition (strand)Source
GRCh38X251,879 - 9,798,930CLINVAR
GRCh37X168,546 - 9,766,970CLINVAR
Build 36X108,546 - 9,726,970CLINVAR
Cytogenetic MapXXp22.33-22.2CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9489452
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.