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Variant : CV156458 (GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3) Homo sapiens

Symbol: CV156458
Name: GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3
Condition: See cases [RCV000135958]
Clinical Significance: pathogenic
Last Evaluated: 11/30/2009
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AKAP4   ALAS2   APEX2   BMP15   CACNA1F   CCDC120   CCDC22   CCNB3   CENPVL1   CENPVL2   CENPVL3   CLCN5   DGKK   EBP   ERAS   EZHIP   FAAH2   FAM104B   FAM120C   FAM156A   FAM156B   FGD1   FLICR   FOXP3   FOXR2   FTSJ1   GAGE1   GAGE10   GAGE12B   GAGE12C   GAGE12D   GAGE12E   GAGE12F   GAGE12G   GAGE12H   GAGE12I   GAGE12J   GAGE13   GAGE2A   GAGE2B   GAGE2C   GAGE2D   GAGE2E   GAGE8   GATA1   GLOD5   GNL3L   GPKOW   GPR173   GRIPAP1   GSPT2   HDAC6   HSD17B10   HUWE1   IQSEC2   ITIH6   KANTR   KCND1   KDM5C   KLF8   LINC01284   LINC01496   MAGED1   MAGED2   MAGED4   MAGED4B   MAGEH1   MAGIX   MIR188   MIR362   MIR4536-1   MIR4536-2   MIR500A   MIR500B   MIR501   MIR502   MIR532   MIR660   MIR6857   MIR6894   MIR6895   MIR8088   MIR98   MIRLET7F2   MTRNR2L10   NBDY   NLRP2B   NUDT10   NUDT11   OTUD5   PAGE1   PAGE2   PAGE2B   PAGE3   PAGE4   PAGE5   PCSK1N   PFKFB1   PHF8   PIM2   PLP2   PORCN   PPP1R3F   PQBP1   PRAF2   PRICKLE3   RBM3   RIBC1   RRAGB   SHROOM4   SLC35A2   SLC38A5   SMC1A   SNORA109   SNORA11   SNORA11D   SNORA11E   SNORA11G   SPANXN5   SPIN2A   SPIN2B   SPIN3   SSX2   SSX2B   SSX3   SSX4   SSX4B   SSX7   SUV39H1   SYP   SYP-AS1   TBC1D25   TFE3   TIMM17B   TRO   TSPYL2   TSR2   UBQLN2   USP27X   USP27X-AS1   USP51   WAS   WDR13   WDR45   WNK3   XAGE1A   XAGE1B   XAGE2   XAGE3   XAGE5   ZXDA   ZXDB  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_48344666)_(58055036_?)dup
NC_000023.10:g.(?_48204101)_(58081470_?)dup
NC_000023.9:g.(?_48089045)_(58098195_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X48,344,666 - 58,055,036CLINVAR
GRCh37X48,204,101 - 58,081,470CLINVAR
Build 36X48,089,045 - 58,098,195CLINVAR
Cytogenetic MapXXp11.23-11.21CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9483524
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-09-10
Status: ACTIVE



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