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Variant : CV159656 (GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3) Homo sapiens

Symbol: CV159656
Name: GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3
Condition: See cases [RCV000138847]
Clinical Significance: pathogenic
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AASS   ABCB8   ABCF2   ABCF2-H2BE1   AC000124.1   AC004690.2   AC005518.1   AC006372.3   AC009264.1   AC009365.3   AC009403.1   AC009518.1   AC019155.2   AC087071.1   AC093583.1   ACTR3B   ACTR3C   ADCK2   AGAP3   AGBL3   AGK   AHCYL2   AKR1B1   AKR1B10   AKR1B15   AKR1D1   AOC1   ARF5   ARHGEF35   ARHGEF35-AS1   ARHGEF5   ASB10   ASB15   ASB15-AS1   ASIC3   ATG9B   ATP6V0A4   ATP6V0E2   ATP6V0E2-AS1   ATP6V1F   ATP6V1FNB   BLACE   BPGM   BRAF   C7orf33   C7orf77   CADPS2   CALD1   CALU   CASP2   CCDC136   CDK5   CEP41   CHCHD3   CHPF2   CHRM2   CLCN1   CLEC2L   CLEC5A   CNOT4   CNPY1   CNTNAP2   CNTNAP2-AS1   COPG2   COPG2IT1   CPA1   CPA2   CPA4   CPA5   CREB3L2   CREB3L2-AS1   CRYGN   CTAGE15   CTAGE4   CTAGE6   CTAGE8   CUL1   CYREN   DENND11   DENND2A   DGKI   DNAJB6   DPP6   DYNC2I1   EN2   EPHA1   EPHA1-AS1   EPHB6   ESYT2   EXOC4   EZH2   FAM131B   FAM180A   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   INSIG1   IQCA1L   IQUB   IRF5   KCNH2   KCP   KDM7A   KDM7A-DT   KEL   KIAA1549   KLF14   KLHDC10   KLRG2   KMT2C   KRBA1   LEP   LINC-PINT   LINC00244   LINC00513   LINC00689   LINC00996   LINC01000   LINC01003   LINC01006   LINC01022   LINC01287   LINC02830   LLCFC1   LMBR1   LMOD2   LRGUK   LRRC4   LRRC61   LUC7L2   LUZP6   MEST   MESTIT1   METTL2B   MGAM   MGAM2   MIR10399   MIR11400   MIR129-1   MIR153-2   MIR182   MIR183   MIR29A   MIR29B1   MIR335   MIR3654   MIR3907   MIR4468   MIR490   MIR548F4   MIR5707   MIR592   MIR593   MIR595   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-AS2   PAXIP1-DT   PDIA4   PIP   PLXNA4   PODXL   POT1   POT1-AS1   PRKAG2   PRKAG2-AS1   PRRT4   PRSS1   PRSS2   PRSS37   PRSS58   PTN   PTPRN2   PTPRN2-AS1   PTPRZ1   RAB19   RARRES2   RBM28   RBM33   REPIN1   REPIN1-AS1   RHEB   RNF133   RNF148   RNF32   RNF32-AS1   RNY1   RNY3   RNY4   RNY5   SHH   SLC13A1   SLC13A4   SLC35B4   SLC37A3   SLC4A2   SMARCD3   SMKR1   SMO   SND1   SND1-IT1   SPAM1   SSBP1   SSMEM1   STMP1   STRA8   STRIP2   SVOPL   TAS2R16   TAS2R3   TAS2R38   TAS2R39   TAS2R4   TAS2R40   TAS2R41   TAS2R5   TAS2R60   TBXAS1   TCAF1   TCAF2   TMEM139   TMEM139-AS1   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   TSPAN33   TTC26   UBE2H   UBE3C   UBN2   VIPR2   WASL   WDR86   WDR86-AS1   WDR91   WEE2   WEE2-AS1   XRCC2   ZBED6CL   ZC3HAV1   ZC3HAV1L   ZC3HC1   ZNF212   ZNF282   ZNF398   ZNF425   ZNF467   ZNF746   ZNF775   ZNF775-AS1   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.(?_121863759)_(159335865_?)dup
NC_000007.13:g.(?_121503813)_(159128555_?)dup
NC_000007.12:g.(?_121291049)_(158821316_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh387121,863,759 - 159,335,865CLINVAR
GRCh377121,503,813 - 159,128,555CLINVAR
Build 367121,291,049 - 158,821,316CLINVAR
Cytogenetic Map77q31.32-36.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9486383
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-06-23
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.