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Variant : CV156217 (GRCh38/hg38 Xp22.33-22.31(chrX:10679-8480277)x1) Homo sapiens

Symbol: CV156217
Name: GRCh38/hg38 Xp22.33-22.31(chrX:10679-8480277)x1
Condition: See cases [RCV000135756]
Clinical Significance: pathogenic
Last Evaluated: 01/27/2011
Review Status: classified by 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   SNORA48B   STS   TRI-GAT1-1   TRI-GAT1-2   TRI-GAT1-3   VCX   VCX2   VCX3A   VCX3B   XG   ZBED1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_10679)_(8480277_?)del
NC_000023.10:g.(?_60679)_(8448318_?)del
NC_000023.9:g.(?_679)_(8408318_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X10,679 - 8,480,277CLINVAR
GRCh37X60,679 - 8,448,318CLINVAR
Build 36X679 - 8,408,318CLINVAR
Cytogenetic MapXXp22.33-22.31CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9483322
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.