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Variant : CV162663 (GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3) Homo sapiens

Symbol: CV162663
Name: GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3
Condition: See cases [RCV000141413]
Clinical Significance: pathogenic
Last Evaluated: 04/30/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AASS   ABCB8   ABCF2   ACTR3B   ACTR3C   ADCK2   AGAP3   AGBL3   AGK   AHCYL2   AKR1B1   AKR1B10   AKR1B15   AKR1D1   ANKRD7   AOC1   ARF5   ARHGEF35   ARHGEF35-AS1   ARHGEF5   ASB10   ASB15   ASB15-AS1   ASIC3   ASZ1   ATG9B   ATP6V0A4   ATP6V0E2   ATP6V0E2-AS1   ATP6V1F   ATP6V1FNB   BLACE   BPGM   BRAF   C7orf33   C7orf77   CADPS2   CALD1   CALU   CAPZA2   CASP2   CAV1   CAV2   CCDC136   CDK5   CEP41   CFTR   CFTR-AS1   CHCHD3   CHPF2   CHRM2   CLCN1   CLEC2L   CLEC5A   CNOT4   CNPY1   CNTNAP2   CNTNAP2-AS1   COMETT   COPG2   COPG2IT1   CPA1   CPA2   CPA4   CPA5   CPED1   CREB3L2   CREB3L2-AS1   CRYGN   CTAGE15   CTAGE4   CTAGE6   CTAGE8   CTTNBP2   CUL1   CYREN   DENND11   DENND2A   DGKI   DNAJB6   DPP6   EN2   EPHA1   EPHA1-AS1   EPHB6   ESYT2   EXOC4   EZH2   FAM131B   FAM180A   FAM3C   FAM71F1   FAM71F2   FASTK   FEZF1   FEZF1-AS1   FLJ40288   FLNC   FLNC-AS1   FMC1   FMC1-LUC7L2   FSCN3   GALNT11   GALNTL5   GBX1   GCC1   GHET1   GIMAP1   GIMAP1-GIMAP5   GIMAP2   GIMAP4   GIMAP5   GIMAP6   GIMAP7   GIMAP8   GPR37   GRM8   GRM8-AS1   GSTK1   H2BE1   HILPDA   HIPK2   HTR5A   HTR5A-AS1   HYAL4   IMPDH1   ING3   INSIG1   IQCA1L   IQUB   IRF5   KCND2   KCNH2   KCP   KDM7A   KDM7A-DT   KEL   KIAA1549   KLF14   KLHDC10   KLRG2   KMT2C   KRBA1   LEP   LINC-PINT   LINC00244   LINC00513   LINC00689   LINC00996   LINC01000   LINC01003   LINC01006   LINC01022   LINC01287   LINC02476   LINC02830   LLCFC1   LMBR1   LMOD2   LRGUK   LRRC4   LRRC61   LSM8   LUC7L2   LUZP6   MEST   MESTIT1   MET   METTL2B   MGAM   MGAM2   MIR10399   MIR11400   MIR129-1   MIR153-2   MIR182   MIR183   MIR29A   MIR29B1   MIR335   MIR3654   MIR3907   MIR4468   MIR490   MIR548F4   MIR5707   MIR592   MIR593   MIR595   MIR6132   MIR6133   MIR6509   MIR671   MIR6892   MIR96   MKLN1   MKLN1-AS   MKRN1   MNX1   MNX1-AS1   MNX1-AS2   MRPS33   MTPN   MTRNR2L6   NCAPG2   NDUFA5   NDUFB2   NDUFB2-AS1   NOBOX   NOM1   NOS3   NRF1   NUB1   NUP205   OPN1SW   OR10AC1   OR2A1   OR2A1-AS1   OR2A12   OR2A14   OR2A2   OR2A25   OR2A42   OR2A5   OR2A7   OR2F1   OR2F2   OR6B1   OR6V1   OR9A2   OR9A4   PARP12   PAX4   PAXIP1   PAXIP1-AS1   PAXIP1-AS2   PDIA4   PIP   PLXNA4   PODXL   POT1   POT1-AS1   PRKAG2   PRKAG2-AS1   PRRT4   PRSS1   PRSS2   PRSS37   PRSS58   PTN   PTPRN2   PTPRZ1   RAB19   RARRES2   RBM28   RBM33   REPIN1   RHEB   RNF133   RNF148   RNF32   RNY1   RNY3   RNY4   RNY5   SHH   SLC13A1   SLC13A4   SLC35B4   SLC37A3   SLC4A2   SMARCD3   SMKR1   SMO   SND1   SND1-IT1   SNORA25B   SPAM1   SSBP1   SSMEM1   ST7   ST7-AS1   ST7-AS2   ST7-OT3   ST7-OT4   STMP1   STRA8   STRIP2   SVOPL   TAS2R16   TAS2R3   TAS2R38   TAS2R39   TAS2R4   TAS2R40   TAS2R41   TAS2R5   TAS2R60   TBXAS1   TCAF1   TCAF2   TES   TFEC   TMEM139   TMEM140   TMEM176A   TMEM176B   TMEM178B   TMEM209   TMEM213   TMEM229A   TMUB1   TNPO3   TPK1   TRB   TRBC1   TRBC2   TRBD1   TRBD2   TRBJ1-1   TRBJ1-2   TRBJ1-3   TRBJ1-4   TRBJ1-5   TRBJ1-6   TRBJ2-1   TRBJ2-2   TRBJ2-3   TRBJ2-4   TRBJ2-5   TRBJ2-6   TRBJ2-7   TRBV10-1   TRBV10-2   TRBV10-3   TRBV11-1   TRBV11-2   TRBV11-3   TRBV12-3   TRBV12-4   TRBV12-5   TRBV13   TRBV14   TRBV15   TRBV17   TRBV18   TRBV19   TRBV2   TRBV20-1   TRBV24-1   TRBV25-1   TRBV27   TRBV28   TRBV29-1   TRBV3-1   TRBV30   TRBV4-1   TRBV4-2   TRBV5-1   TRBV5-4   TRBV5-5   TRBV5-6   TRBV5-7   TRBV6-1   TRBV6-3   TRBV6-4   TRBV6-5   TRBV6-6   TRBV6-8   TRBV7-2   TRBV7-3   TRBV7-4   TRBV7-6   TRBV7-7   TRBV7-9   TRBV9   TRC-GCA1-1   TRC-GCA10-1   TRC-GCA11-1   TRC-GCA12-1   TRC-GCA13-1   TRC-GCA15-1   TRC-GCA16-1   TRC-GCA17-1   TRC-GCA18-1   TRC-GCA19-1   TRC-GCA20-1   TRC-GCA21-1   TRC-GCA22-1   TRC-GCA23-1   TRC-GCA3-1   TRC-GCA9-2   TRC-GCA9-3   TRC-GCA9-4   TRIM24   TRP-AGG2-3   TRPV5   TRPV6   TRR-CCT4-1   TRS-AGA5-1   TSGA13   TSPAN12   TSPAN33   TTC26   UBE2H   UBE3C   UBN2   VIPR2   WASL   WDR60   WDR86   WDR86-AS1   WDR91   WEE2   WEE2-AS1   WNT16   WNT2   XRCC2   ZBED6CL   ZC3HAV1   ZC3HAV1L   ZC3HC1   ZNF212   ZNF282   ZNF398   ZNF425   ZNF467   ZNF746   ZNF775   ZNF777   ZNF783   ZNF786   ZNF800   ZNF862   ZYX  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_115459015)_(159325817_?)dup
NC_000007.13:g.(?_115099069)_(159118507_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh387115,459,015 - 159,325,817CLINVAR
GRCh377115,099,069 - 159,118,507CLINVAR
Build 367114,886,305 - 158,811,268CLINVAR
Cytogenetic Map77q31.2-36.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9488938
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-07
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.