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Variant : CV682500 (46,Y,inv(X)(p21.1q13.3)) Homo sapiens

Symbol: CV682500
Name: 46,Y,inv(X)(p21.1q13.3)
Condition: Elevated serum creatine phosphokinase [RCV000856573]
Clinical Significance: likely pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ABCB7   AKAP4   ALAS2   AMER1   APEX2   AR   ARAF   ARHGEF9   ARR3   ASB12   ATP6AP2   AWAT1   AWAT2   BCOR   BMP15   CACNA1F   CASK   CCDC120   CCDC22   CCNB3   CDK16   CDX4   CFAP47   CFP   CHIC1   CHST7   CITED1   CLCN5   CXCR3   CXorf38   CXorf49   CXorf49B   CXorf65   CYBB   DDX3X   DGAT2L6   DGKK   DIPK2B   DLG3   DMD   DMRTC1   DMRTC1B   DUSP21   DYNLT3   EBP   EDA   EDA2R   EFHC2   EFNB1   ELK1   ERAS   ERCC6L   FAAH2   FAM104B   FAM120C   FAM155B   FAM156A   FAM156B   FAM47A   FAM47B   FAM47C   FGD1   FOXO4   FOXP3   FOXR2   FTHL18   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   GPR34   GPR82   GRIPAP1   GSPT2   H2AP   HDAC6   HDAC8   HEPH   HSD17B10   HUWE1   IGBP1   IL2RG   INE1   IQSEC2   ITGB1BP2   ITIH6   JADE3   JPX   KCND1   KDM5C   KDM6A   KIF4A   KLF8   KRBOX4   LANCL3   LAS1L   LINC01560   MAGEB16   MAGED1   MAGED2   MAGED4   MAGED4B   MAGEE2   MAGEH1   MAGIX   MAOA   MAOB   MED12   MED14   MID1IP1   MIR221   MIR222   MIR223   MIR502   MIR532   MIR98   MIRLET7F2   MPC1L   MSN   MTMR8   MTRNR2L10   NAP1L2   NDP   NDUFB11   NEXMIF   NHSL2   NLGN3   NONO   NUDT10   NUDT11   NYX   OGT   OPHN1   OTC   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   PRRG1   RAB41   RBM10   RBM3   RGN   RIBC1   RLIM   RP2   RPGR   RPS4X   RRAGB   RTL5   SHROOM4   SLC16A2   SLC35A2   SLC38A5   SLC7A3   SLC9A7   SMC1A   SNORA11   SNX12   SPACA5   SPACA5B   SPANXN5   SPIN2A   SPIN2B   SPIN3   SPIN4   SRPX   SSX1   SSX2   SSX2B   SSX3   SSX4   SSX4B   SSX5   SSX7   STARD8   SUV39H1   SYN1   SYP   SYTL5   TAF1   TBC1D25   TEX11   TFE3   TIMM17B   TIMP1   TMEM47   TRO   TSIX   TSPAN7   TSPYL2   TSR2   UBA1   UBQLN2   UPRT   USP11   USP27X   USP51   USP9X   UXT   VSIG4   WAS   WDR13   WDR45   WNK3   XAGE1A   XAGE1B   XAGE2   XAGE3   XAGE5   XIST   XK   YIPF6   ZC3H12B   ZC4H2   ZCCHC13   ZDHHC15   ZMYM3   ZNF157   ZNF182   ZNF41   ZNF630   ZNF674   ZNF81   ZXDA   ZXDB  
Variant Type: inversion (SO:1000036)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37X32,196,272 - 75,245,806CLINVAR
Cytogenetic MapXXp21.1-q13.3CLINVAR
Trait Synonyms: CAV3-Related Isolated HyperCKemia; Elevated blood creatine phosphokinase; Elevated circulating creatine phosphokinase; Elevated creatine kinase; Elevated serum CPK; Elevated serum creatine kinase; High serum creatine kinase; HYPERCKEMIA, IDIOPATHIC; Increased CPK; Increased creatine kinase; Increased creatine phosphokinase; Increased serum CK; Increased serum creatine kinase; Increased serum creatine phosphokinase




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 15040202
Created: 2019-12-10
Species: Homo sapiens
Last Modified: 2020-03-24
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.