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Variant : CV170747 (GRCh38/hg38 Xp22.33-22.31(chrX:10679-8480277)x3) Homo sapiens

Symbol: CV170747
Name: GRCh38/hg38 Xp22.33-22.31(chrX:10679-8480277)x3
Condition: See cases [RCV000053818]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AKAP17A   ARSD   ARSD-AS1   ARSF   ARSH   ARSL   ASMT   ASMTL   ASMTL-AS1   CD99   CRLF2   CSF2RA   DHRSX   GTPBP6   GYG2   IL3RA   LINC00102   LINC00106   LINC00685   LINC01546   MIR3690   MIR4767   MIR4770   MIR6089   MIR651   MXRA5   NLGN4X   P2RY8   PLCXD1   PNPLA4   PPP2R3B   PRKX   PRKX-AS1   PUDP   SHOX   SLC25A6   STS   TRI-GAT1-1   TRI-GAT1-2   TRI-GAT1-3   VCX   VCX2   VCX3A   VCX3B   XG   ZBED1  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_10679)_(8480277_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38X10,679 - 8,480,277CLINVAR
GRCh37X60,679 - 8,448,318CLINVAR
Build 36X679 - 8,408,318CLINVAR
Cytogenetic MapXXp22.33-22.31CLINVAR

Additional Information

RGD Object Information
RGD ID: 9684584
Created: 2014-12-09
Species: Homo sapiens
Last Modified: 2017-10-31
Status: ACTIVE


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