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Variant : CV382705 (GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3) Homo sapiens

Symbol: CV382705
Name: GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3
Condition: See cases [RCV000447956]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ABCB8   ABCF2   ACTR3B   ACTR3C   ADCK2   AGAP3   AGBL3   AGK   AHCYL2   AKR1B1   AKR1B10   AKR1B15   AKR1D1   AOC1   ARHGEF35   ARHGEF5   ASB10   ASIC3   ATG9B   ATP6V0A4   ATP6V0E2   ATP6V1F   BPGM   BRAF   C7orf33   CALD1   CALU   CASP2   CCDC136   CDK5   CEP41   CHCHD3   CHPF2   CHRM2   CLCN1   CLEC2L   CLEC5A   CNOT4   CNPY1   CNTNAP2   COPG2   CPA1   CPA2   CPA4   CPA5   CREB3L2   CRYGN   CTAGE15   CTAGE4   CTAGE6   CTAGE8   CUL1   CYREN   DENND11   DENND2A   DGKI   DNAJB6   EN2   EPHA1   EPHB6   ESYT2   EXOC4   EZH2   FAM131B   FAM180A   FAM71F1   FAM71F2   FASTK   FLNC   FMC1   FMC1-LUC7L2   GALNT11   GALNTL5   GBX1   GIMAP1   GIMAP2   GIMAP4   GIMAP5   GIMAP6   GIMAP7   GIMAP8   GSTK1   HTR5A   INSIG1   IRF5   KCNH2   KCP   KDM7A   KEL   KIAA1549   KLF14   KLHDC10   KLRG2   KMT2C   KRBA1   LLCFC1   LMBR1   LRGUK   LRRC61   LUC7L2   LUZP6   MEST   MESTIT1   MGAM   MIR182   MIR183   MIR29A   MIR29B1   MIR335   MIR671   MIR96   MKLN1   MKRN1   MNX1   MRPS33   MTPN   MTRNR2L6   NCAPG2   NDUFB2   NOBOX   NOM1   NOS3   NRF1   NUB1   NUP205   OPN1SW   OR2A1   OR2A12   OR2A14   OR2A2   OR2A25   OR2A42   OR2A5   OR2A7   OR2F1   OR2F2   OR6B1   OR6V1   OR9A2   OR9A4   PARP12   PAXIP1   PDIA4   PIP   PLXNA4   PODXL   PRKAG2   PRSS1   PRSS37   PRSS58   PTN   PTPRN2   RAB19   RARRES2   RBM33   REPIN1   RHEB   RNF32   RNY1   RNY3   RNY4   RNY5   SHH   SLC13A4   SLC35B4   SLC37A3   SLC4A2   SMARCD3   SMKR1   SMO   SSBP1   SSMEM1   STMP1   STRA8   STRIP2   SVOPL   TAS2R3   TAS2R38   TAS2R39   TAS2R4   TAS2R40   TAS2R41   TAS2R5   TAS2R60   TBXAS1   TCAF1   TCAF2   TMEM139   TMEM140   TMEM176A   TMEM176B   TMEM178B   TMEM209   TMEM213   TMUB1   TNPO3   TPK1   TRB   TRIM24   TRPV5   TRPV6   TSGA13   TSPAN33   TTC26   UBE2H   UBE3C   UBN2   VIPR2   WDR60   WDR86   WDR91   WEE2   XRCC2   ZBED6CL   ZC3HAV1   ZC3HAV1L   ZC3HC1   ZNF212   ZNF282   ZNF398   ZNF425   ZNF467   ZNF746   ZNF775   ZNF777   ZNF783   ZNF786   ZNF862   ZYX  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh377128,276,078 - 159,119,707CLINVAR
Cytogenetic Map77q32.1-36.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12852667
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-01-21
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.