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Variant : CV157419 (GRCh38/hg38 Xp11.23-11.22(chrX:48260861-52664916)x2) Homo sapiens

Symbol: CV157419
Name: GRCh38/hg38 Xp11.23-11.22(chrX:48260861-52664916)x2
Condition: See cases [RCV000136829]
Clinical Significance: pathogenic
Last Evaluated: 10/14/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AKAP4   BMP15   CACNA1F   CCDC120   CCDC22   CCNB3   CENPVL1   CENPVL2   CENPVL3   CLCN5   DGKK   EBP   ERAS   EZHIP   FLICR   FOXP3   FTSJ1   GAGE1   GAGE10   GAGE12B   GAGE12C   GAGE12D   GAGE12E   GAGE12F   GAGE12G   GAGE12H   GAGE12I   GAGE12J   GAGE13   GAGE2A   GAGE2B   GAGE2C   GAGE2D   GAGE2E   GAGE8   GATA1   GLOD5   GPKOW   GRIPAP1   GSPT2   HDAC6   KCND1   LINC01284   LINC01496   MAGED1   MAGED4   MAGED4B   MAGIX   MIR188   MIR362   MIR500A   MIR500B   MIR501   MIR502   MIR532   MIR660   MIR8088   NUDT10   NUDT11   OTUD5   PAGE1   PAGE4   PCSK1N   PIM2   PLP2   PORCN   PPP1R3F   PQBP1   PRAF2   PRICKLE3   RBM3   SHROOM4   SLC35A2   SLC38A5   SNORA11D   SNORA11E   SSX1   SSX3   SSX4   SSX4B   SSX7   SUV39H1   SYP   SYP-AS1   TBC1D25   TFE3   TIMM17B   USP27X   USP27X-AS1   WAS   WDR13   WDR45   XAGE1A   XAGE1B   XAGE2  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_48260861)_(52664916_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38X48,260,861 - 52,664,916CLINVAR
GRCh37X48,120,296 - 52,616,581 (+)CLINVAR
Build 36X48,005,240 - 52,710,691CLINVAR
Cytogenetic MapXXp11.23-11.22CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9484390
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.