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Variant : CV156388 (GRCh38/hg38 Xp22.33-22.2(chrX:2936461-17287323)x2) Homo sapiens

Symbol: CV156388
Name: GRCh38/hg38 Xp22.33-22.2(chrX:2936461-17287323)x2
Condition: See cases [RCV000135895]
Clinical Significance: pathogenic
Last Evaluated: 02/16/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACE2   AMELX   ANOS1   AP1S2   ARHGAP6   ARSF   ARSH   ARSL   ASB11   ASB9   ATXN3L   BMX   CA5B   CLCN4   CLDN34   CLTRN   CTPS2   EGFL6   FAM9A   FAM9B   FAM9C   FANCB   FRMPD4   GEMIN8   GLRA2   GPM6B   GPR143   GRPR   HCCS   INE2   LINC01203   LINC01546   LINC02154   MAGEB17   MID1   MIR4767   MIR4770   MIR548AM   MIR548AX   MIR6086   MIR651   MOSPD2   MSL3   MXRA5   NLGN4X   OFD1   PIGA   PIR   PNPLA4   PRKX   PRKX-AS1   PRPS2   PUDP   RAB9A   RBBP7   REPS2   S100G   SHROOM2   SNORA48B   STS   SYAP1   TBL1X   TCEANC   TLR7   TLR8   TLR8-AS1   TMSB4X   TRAPPC2   TRI-GAT1-1   TRI-GAT1-2   TRI-GAT1-3   TXLNG   VCX   VCX2   VCX3A   VCX3B   VEGFD   WWC3   ZRSR2  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_2936461)_(17287323_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38X2,936,461 - 17,287,323CLINVAR
GRCh37X2,854,502 - 17,305,446CLINVAR
Build 36X2,864,502 - 17,215,367CLINVAR
Cytogenetic MapXXp22.33-22.2CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9483461
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.