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Variant : CV672554 (GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1) Homo sapiens

Symbol: CV672554
Name: GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1
Condition: not provided [RCV000845670]
Clinical Significance: pathogenic
Last Evaluated: 07/18/2018
Review Status: no assertion criteria provided
Related Genes: ABCB7   AKAP4   ALAS2   AMER1   APEX2   APOOL   AR   ARAF   ARHGEF9   ARR3   ASB12   ATP7A   ATRX   AWAT1   AWAT2   BMP15   BRWD3   CACNA1F   CASK   CCDC120   CCDC22   CCNB3   CDK16   CDX4   CFP   CHIC1   CHM   CHST7   CITED1   CLCN5   COX7B   CPXCR1   CXCR3   CXorf49   CXorf49B   CXorf65   CYLC1   CYSLTR1   DACH2   DDX3X   DGAT2L6   DGKK   DIPK2B   DLG3   DMRTC1   DMRTC1B   DUSP21   EBP   EDA   EDA2R   EFHC2   EFNB1   ELK1   ERAS   ERCC6L   FAAH2   FAM104B   FAM120C   FAM155B   FAM156A   FAM156B   FGD1   FGF16   FOXO4   FOXP3   FOXR2   FTSJ1   FTX   FUNDC1   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   GPR174   GPR34   GPR82   GRIPAP1   GSPT2   HDAC6   HDAC8   HDX   HEPH   HMGN5   HSD17B10   HUWE1   IGBP1   IL2RG   INE1   IQSEC2   ITGB1BP2   ITIH6   ITM2A   JADE3   JPX   KCND1   KDM5C   KDM6A   KIF4A   KLF8   KLHL4   KRBOX4   LAS1L   LINC01560   LPAR4   MAGED1   MAGED2   MAGED4   MAGED4B   MAGEE1   MAGEE2   MAGEH1   MAGIX   MAGT1   MAOA   MAOB   MED12   MED14   MIR221   MIR222   MIR223   MIR502   MIR532   MIR98   MIRLET7F2   MSN   MTMR8   MTRNR2L10   NAP1L2   NDP   NDUFB11   NEXMIF   NHSL2   NLGN3   NONO   NUDT10   NUDT11   NYX   OGT   OPHN1   OTUD5   OTUD6A   P2RY10   P2RY4   PABPC1L2A   PABPC1L2B   PABPC5   PAGE1   PAGE2   PAGE2B   PAGE3   PAGE4   PAGE5   PBDC1   PCDH11X   PCSK1N   PDZD11   PFKFB1   PGAM4   PGK1   PHF8   PHKA1   PIM2   PIN4   PJA1   PLP2   POF1B   PORCN   POU3F4   PPP1R3F   PQBP1   PRAF2   PRICKLE3   RAB41   RBM10   RBM3   RGN   RIBC1   RLIM   RP2   RPS4X   RPS6KA6   RRAGB   RTL3   RTL5   SATL1   SH3BGRL   SHROOM4   SLC16A2   SLC35A2   SLC38A5   SLC7A3   SLC9A7   SMC1A   SNORA11   SNX12   SPACA5   SPACA5B   SPANXN5   SPIN2A   SPIN2B   SPIN3   SPIN4   SSX1   SSX2   SSX2B   SSX3   SSX4   SSX4B   SSX5   SSX7   STARD8   SUV39H1   SYN1   SYP   TAF1   TAF9B   TBC1D25   TBX22   TENT5D   TEX11   TFE3   TGIF2LX   TIMM17B   TIMP1   TRO   TSIX   TSPYL2   TSR2   UBA1   UBQLN2   UPRT   USP11   USP27X   USP51   USP9X   UXT   VSIG4   WAS   WDR13   WDR45   WNK3   XAGE1A   XAGE1B   XAGE2   XAGE3   XAGE5   XIST   YIPF6   ZC3H12B   ZC4H2   ZCCHC13   ZDHHC15   ZMYM3   ZNF157   ZNF182   ZNF41   ZNF630   ZNF674   ZNF711   ZNF81   ZXDA   ZXDB  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37X40,572,613 - 92,796,528CLINVAR
Cytogenetic MapXXp11.4-q21.32CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14976426
Created: 2019-10-08
Species: Homo sapiens
Last Modified: 2019-11-12
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.