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Variant : CV436846 (GRCh37/hg19 Xp11.23-11.22(chrX:48224454-52813336)x3) Homo sapiens

Symbol: CV436846
Name: GRCh37/hg19 Xp11.23-11.22(chrX:48224454-52813336)x3
Condition: See cases [RCV000512224]
Clinical Significance: pathogenic
Last Evaluated: 12/14/2014
Review Status: no assertion criteria provided
Related Genes: AKAP4   BMP15   CACNA1F   CCDC120   CCDC22   CCNB3   CLCN5   DGKK   EBP   ERAS   FOXP3   FTSJ1   GAGE1   GAGE12B   GAGE12C   GAGE12D   GAGE12E   GAGE12F   GAGE12G   GAGE12H   GAGE12I   GAGE12J   GAGE13   GAGE2A   GAGE2B   GAGE2C   GAGE2D   GAGE2E   GAGE8   GATA1   GLOD5   GPKOW   GRIPAP1   GSPT2   HDAC6   KCND1   MAGED1   MAGED4   MAGED4B   MAGIX   MIR502   MIR532   NUDT10   NUDT11   OTUD5   PAGE1   PAGE4   PCSK1N   PIM2   PLP2   PORCN   PPP1R3F   PQBP1   PRAF2   PRICKLE3   RBM3   SHROOM4   SLC35A2   SLC38A5   SSX2   SSX2B   SSX4   SSX4B   SSX7   SUV39H1   SYP   TBC1D25   TFE3   TIMM17B   USP27X   WAS   WDR13   WDR45   XAGE1A   XAGE1B   XAGE2  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37X48,224,454 - 52,813,336CLINVAR
Cytogenetic MapXXp11.23-11.22CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 13445190
Created: 2017-11-07
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.