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Variant : CV162819 (GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3) Homo sapiens

Symbol: CV162819
Name: GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3
Condition: See cases [RCV000141567]
Clinical Significance: pathogenic
Last Evaluated: 10/01/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AKAP4   ARAF   BMP15   CACNA1F   CCDC120   CCDC22   CCNB3   CDK16   CENPVL1   CENPVL2   CENPVL3   CFP   CLCN5   DGKK   EBP   ELK1   ERAS   EZHIP   FAM120C   FAM156A   FAM156B   FLICR   FOXP3   FTSJ1   GAGE1   GAGE10   GAGE12B   GAGE12C   GAGE12D   GAGE12E   GAGE12F   GAGE12G   GAGE12H   GAGE12I   GAGE12J   GAGE13   GAGE2A   GAGE2B   GAGE2C   GAGE2D   GAGE2E   GAGE8   GATA1   GLOD5   GPKOW   GPR173   GRIPAP1   GSPT2   HDAC6   HSD17B10   HUWE1   INE1   IQSEC2   JADE3   KANTR   KCND1   KDM5C   LINC01284   LINC01496   LINC01560   MAGED1   MAGED4   MAGED4B   MAGIX   MIR188   MIR362   MIR4769   MIR500A   MIR500B   MIR501   MIR502   MIR532   MIR660   MIR6857   MIR6894   MIR6895   MIR8088   MIR98   MIRLET7F2   NDUFB11   NUDT10   NUDT11   OTUD5   PAGE1   PAGE4   PCSK1N   PHF8   PIM2   PLP2   PORCN   PPP1R3F   PQBP1   PRAF2   PRICKLE3   RBM10   RBM3   RGN   RIBC1   SHROOM4   SLC35A2   SLC38A5   SMC1A   SNORA11C   SNORA11D   SNORA11E   SPACA5   SPACA5B   SPANXN5   SSX1   SSX2   SSX2B   SSX3   SSX4   SSX4B   SSX5   SSX7   SUV39H1   SYN1   SYP   SYP-AS1   TBC1D25   TFE3   TIMM17B   TIMP1   TSPYL2   UBA1   USP11   USP27X   USP27X-AS1   UXT   UXT-AS1   WAS   WDR13   WDR45   XAGE1A   XAGE1B   XAGE2   XAGE3   XAGE5   ZNF157   ZNF182   ZNF41   ZNF630   ZNF630-AS1   ZNF81  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_46971389)_(54130971_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38X46,971,389 - 54,130,971 (+)CLINVAR
GRCh37X46,818,746 - 53,957,191 (+)CLINVAR
Build 36X46,703,690 - 54,174,129CLINVAR
Cytogenetic MapXXp11.3-11.22CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9489092
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-09-10
Status: ACTIVE


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