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Variant : CV159458 (GRCh38/hg38 Xp22.33-22.2(chrX:253124-12931344)x1) Homo sapiens

Symbol: CV159458
Name: GRCh38/hg38 Xp22.33-22.2(chrX:253124-12931344)x1
Condition: See cases [RCV000138680]
Clinical Significance: pathogenic
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AKAP17A   AMELX   ANOS1   ARHGAP6   ARSD   ARSD-AS1   ARSF   ARSH   ARSL   ASMT   ASMTL   ASMTL-AS1   CD99   CLCN4   CLDN34   CRLF2   CSF2RA   DHRSX   FAM9A   FAM9B   FRMPD4   GPR143   GTPBP6   GYG2   HCCS   IL3RA   LINC00102   LINC00106   LINC00685   LINC01546   MID1   MIR3690   MIR4767   MIR4770   MIR548AX   MIR6089   MIR651   MSL3   MXRA5   NLGN4X   P2RY8   PLCXD1   PNPLA4   PPP2R3B   PRKX   PRKX-AS1   PRPS2   PUDP   SHOX   SHROOM2   SLC25A6   SNORA48B   STS   TBL1X   TLR7   TLR8   TLR8-AS1   TRI-GAT1-1   TRI-GAT1-2   TRI-GAT1-3   VCX   VCX2   VCX3A   VCX3B   WWC3   XG   ZBED1  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_253124)_(12931344_?)del
Human AssemblyChrPosition (strand)Source
GRCh38X253,124 - 12,931,344CLINVAR
GRCh37X169,791 - 12,949,463CLINVAR
Build 36X109,791 - 12,859,384CLINVAR
Cytogenetic MapXXp22.33-22.2CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9486217
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-17
Status: ACTIVE


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