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Variant : CV383718 (GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3) Homo sapiens

Symbol: CV383718
Name: GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3
Condition: See cases [RCV000447709]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: AASS   ABCB8   ABCF2   ACHE   ACTL6B   ACTR3B   ACTR3C   ADCK2   AGAP3   AGBL3   AGFG2   AGK   AHCYL2   AKR1B1   AKR1B10   AKR1B15   AKR1D1   ALKBH4   ANKRD7   AOC1   AP1S1   AP4M1   ARF5   ARHGEF35   ARHGEF5   ARMC10   ARPC1B   ASB10   ASB15   ASIC3   ASZ1   ATG9B   ATP5MF   ATP5MF-PTCD1   ATP6V0A4   ATP6V0E2   ATP6V1F   ATXN7L1   AZGP1   BCAP29   BMT2   BPGM   BRAF   BUD31   C7orf33   C7orf61   C7orf66   CADPS2   CALD1   CALU   CAPZA2   CASP2   CASTOR3   CAV1   CAV2   CBLL1   CCDC136   CCDC71L   CDHR3   CDK5   CEP41   CFTR   CHCHD3   CHPF2   CHRM2   CLCN1   CLDN15   CLEC2L   CLEC5A   CNOT4   CNPY1   CNPY4   CNTNAP2   COG5   COL26A1   COPG2   COPS6   CPA1   CPA2   CPA4   CPA5   CPED1   CPSF4   CREB3L2   CRYGN   CTAGE15   CTAGE4   CTAGE6   CTAGE8   CTTNBP2   CUL1   CUX1   CYP3A4   CYP3A43   CYP3A5   CYP3A7   CYREN   DENND11   DENND2A   DGKI   DLD   DNAJB6   DNAJB9   DNAJC2   DOCK4   DUS4L   EN2   EPHA1   EPHB4   EPHB6   EPO   ESYT2   EXOC4   EZH2   FAM131B   FAM180A   FAM185A   FAM200A   FAM3C   FAM71F1   FAM71F2   FASTK   FBXL13   FBXO24   FEZF1   FIS1   FLNC   FMC1   FMC1-LUC7L2   FOXP2   FSCN3   GAL3ST4   GALNT11   GALNTL5   GBX1   GCC1   GIGYF1   GIMAP1   GIMAP2   GIMAP4   GIMAP5   GIMAP6   GIMAP7   GIMAP8   GJC3   GNB2   GPC2   GPR22   GPR37   GPR85   GRM8   GSTK1   HBP1   HILPDA   HTR5A   HYAL4   IFRD1   IFT22   IMMP2L   IMPDH1   ING3   INSIG1   IQUB   IRF5   KCND2   KCNH2   KCP   KDM7A   KEL   KIAA1549   KLF14   KLHDC10   KLRG2   KMT2C   KMT2E   KRBA1   LAMB1   LAMB4   LAMTOR4   LEP   LHFPL3   LLCFC1   LMBR1   LMOD2   LRCH4   LRGUK   LRRC17   LRRC4   LRRC61   LRRN3   LRWD1   LSM8   LSMEM1   LUC7L2   LUZP6   MAP11   MBLAC1   MCM7   MDFIC   MEPCE   MEST   MESTIT1   MET   METTL2B   MGAM   MIR106B   MIR182   MIR183   MIR25   MIR29A   MIR29B1   MIR335   MIR671   MIR93   MIR96   MKLN1   MKRN1   MNX1   MOGAT3   MOSPD3   MRPS33   MTPN   MTRNR2L6   MUC12   MUC17   MUC3A   MYL10   NAMPT   NAPEPLD   NAT16   NCAPG2   NDUFA5   NDUFB2   NFE4   NOBOX   NOM1   NOS3   NRCAM   NRF1   NUB1   NUP205   NYAP1   OPN1SW   OR2A1   OR2A12   OR2A14   OR2A2   OR2A25   OR2A42   OR2A5   OR2A7   OR2AE1   OR2F1   OR2F2   OR6B1   OR6V1   OR9A2   OR9A4   ORAI2   ORC5   PARP12   PAX4   PAXIP1   PCOLCE   PDAP1   PDIA4   PIK3CG   PILRA   PIP   PLOD3   PLXNA4   PMPCB   PNPLA8   PODXL   POLR2J   POLR2J2   POLR2J3   POP7   POT1   PPP1R35   PPP1R3A   PRKAG2   PRKAR2B   PRKRIP1   PRRT4   PRSS1   PRSS37   PRSS58   PSMC2   PTCD1   PTN   PTPRN2   PTPRZ1   PUS7   PVRIG   RAB19   RARRES2   RASA4   RASA4B   RBM28   RBM33   RELN   REPIN1   RHEB   RINT1   RNF133   RNF148   RNF32   RNU2-1   RNY1   RNY3   RNY4   RNY5   SAP25   SERPINE1   SH2B2   SHH   SLC12A9   SLC13A1   SLC13A4   SLC26A3   SLC26A4   SLC26A5   SLC35B4   SLC37A3   SLC4A2   SMARCD3   SMKR1   SMO   SND1   SPAM1   SPDYE2   SPDYE2B   SPDYE3   SPDYE6   SRPK2   SRRT   SSBP1   SSMEM1   ST7   ST7-OT3   ST7-OT4   STAG3   STMP1   STRA8   STRIP2   SVOPL   SYPL1   TAF6   TAS2R16   TAS2R3   TAS2R38   TAS2R39   TAS2R4   TAS2R40   TAS2R41   TAS2R5   TAS2R60   TBXAS1   TCAF1   TCAF2   TES   TFEC   TFR2   THAP5   TMEM139   TMEM140   TMEM168   TMEM176A   TMEM176B   TMEM178B   TMEM209   TMEM213   TMEM229A   TMUB1   TNPO3   TPK1   TRB   TRIM24   TRIM4   TRIM56   TRIP6   TRPV5   TRPV6   TSC22D4   TSGA13   TSPAN12   TSPAN33   TTC26   UBE2H   UBE3C   UBN2   UFSP1   UPK3BL1   VGF   VIPR2   WASL   WDR60   WDR86   WDR91   WEE2   WNT16   WNT2   XRCC2   ZAN   ZBED6CL   ZC3HAV1   ZC3HAV1L   ZC3HC1   ZCWPW1   ZKSCAN1   ZKSCAN5   ZNF212   ZNF277   ZNF282   ZNF3   ZNF394   ZNF398   ZNF425   ZNF467   ZNF655   ZNF746   ZNF775   ZNF777   ZNF783   ZNF786   ZNF789   ZNF800   ZNF862   ZNHIT1   ZSCAN21   ZSCAN25   ZYX  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37798,969,247 - 159,119,707CLINVAR
Cytogenetic Map77q22.1-36.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12852422
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-11-05
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.