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Variant : CV163257 (GRCh38/hg38 Xp11.23-11.22(chrX:48953927-53273903)x2) Homo sapiens

Symbol: CV163257
Name: GRCh38/hg38 Xp11.23-11.22(chrX:48953927-53273903)x2
Condition: See cases [RCV000141869]
Clinical Significance: pathogenic
Last Evaluated: 07/01/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AKAP4   BMP15   CACNA1F   CCDC120   CCDC22   CCNB3   CENPVL1   CENPVL2   CENPVL3   CLCN5   DGKK   EZHIP   FAM156A   FAM156B   FLICR   FOXP3   GAGE1   GAGE10   GAGE12B   GAGE12C   GAGE12D   GAGE12E   GAGE12F   GAGE12G   GAGE12H   GAGE12I   GAGE12J   GAGE13   GAGE2A   GAGE2B   GAGE2C   GAGE2D   GAGE2E   GAGE8   GPKOW   GPR173   GRIPAP1   GSPT2   IQSEC2   KANTR   KCND1   KDM5C   LINC01284   LINC01496   MAGED1   MAGED4   MAGED4B   MAGIX   MIR188   MIR362   MIR500A   MIR500B   MIR501   MIR502   MIR532   MIR660   MIR6894   MIR6895   MIR8088   NUDT10   NUDT11   OTUD5   PAGE1   PAGE4   PLP2   PPP1R3F   PRAF2   PRICKLE3   SHROOM4   SNORA11D   SNORA11E   SPANXN5   SSX2   SSX2B   SSX7   SYP   SYP-AS1   TFE3   TSPYL2   USP27X   USP27X-AS1   WDR45   XAGE1A   XAGE1B   XAGE2   XAGE3   XAGE5  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_48953927)_(53273903_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38X48,953,927 - 53,273,903CLINVAR
GRCh37X48,811,187 - 53,303,085CLINVAR
Build 36X48,696,131 - 53,319,810CLINVAR
Cytogenetic MapXXp11.23-11.22CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9489392
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.