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Variant : CV608235 (GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1) Homo sapiens

Symbol: CV608235
Name: GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1
Condition: not provided [RCV000753535]
Clinical Significance: pathogenic
Last Evaluated: 01/21/2016
Review Status: no assertion criteria provided
Related Genes: AKAP4   ALAS2   AMER1   APEX2   AR   ARHGEF9   ARR3   ASB12   AWAT1   AWAT2   BMP15   CACNA1F   CCDC120   CCDC22   CCNB3   CDX4   CHIC1   CITED1   CLCN5   CXCR3   CXorf49   CXorf49B   CXorf65   DGAT2L6   DGKK   DLG3   DMRTC1   DMRTC1B   EBP   EDA   EDA2R   EFNB1   ERAS   ERCC6L   FAAH2   FAM104B   FAM120C   FAM155B   FAM156A   FAM156B   FGD1   FOXO4   FOXP3   FOXR2   FTSJ1   FTX   GAGE1   GAGE12B   GAGE12C   GAGE12D   GAGE12E   GAGE12F   GAGE12G   GAGE12H   GAGE12I   GAGE12J   GAGE13   GAGE2A   GAGE2B   GAGE2C   GAGE2D   GAGE2E   GAGE8   GATA1   GCNA   GDPD2   GJB1   GLOD5   GNL3L   GPKOW   GPR173   GRIPAP1   GSPT2   HDAC6   HDAC8   HEPH   HSD17B10   HUWE1   IGBP1   IL2RG   IQSEC2   ITGB1BP2   ITIH6   JPX   KCND1   KDM5C   KIF4A   KLF8   LAS1L   MAGED1   MAGED2   MAGED4   MAGED4B   MAGEH1   MAGIX   MED12   MIR223   MIR502   MIR532   MIR98   MIRLET7F2   MSN   MTMR8   MTRNR2L10   NAP1L2   NHSL2   NLGN3   NONO   NUDT10   NUDT11   OGT   OPHN1   OTUD5   OTUD6A   P2RY4   PABPC1L2A   PABPC1L2B   PAGE1   PAGE2   PAGE2B   PAGE3   PAGE4   PAGE5   PCSK1N   PDZD11   PFKFB1   PHF8   PHKA1   PIM2   PIN4   PJA1   PLP2   PORCN   PPP1R3F   PQBP1   PRAF2   PRICKLE3   RAB41   RBM3   RIBC1   RPS4X   RRAGB   RTL5   SHROOM4   SLC35A2   SLC38A5   SLC7A3   SMC1A   SNORA11   SNX12   SPANXN5   SPIN2A   SPIN2B   SPIN3   SPIN4   SSX1   SSX2   SSX2B   SSX3   SSX4   SSX4B   SSX7   STARD8   SUV39H1   SYP   TAF1   TBC1D25   TEX11   TFE3   TIMM17B   TRO   TSIX   TSPYL2   TSR2   UBQLN2   USP27X   USP51   VSIG4   WAS   WDR13   WDR45   WNK3   XAGE1A   XAGE1B   XAGE2   XAGE3   XAGE5   XIST   YIPF6   ZC3H12B   ZC4H2   ZMYM3   ZXDA   ZXDB  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37X48,115,450 - 73,424,191CLINVAR
Cytogenetic MapXXp11.23-q13.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14350426
Created: 2019-02-12
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.