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Variant : CV71810 (GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3) Homo sapiens

Symbol: CV71810
Name: GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3
Condition: See cases [RCV000050876]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ABCB8   ABCF2   ABCF2-H2BE1   ACTR3B   ACTR3C   ADCK2   AGAP3   AGBL3   AGK   AHCYL2   AKR1B1   AKR1B10   AKR1B15   AKR1D1   AOC1   ARHGEF35   ARHGEF35-AS1   ARHGEF5   ASB10   ASIC3   ATG9B   ATP6V0A4   ATP6V0E2   ATP6V0E2-AS1   BLACE   BPGM   BRAF   C7orf33   CALD1   CASP2   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   FASTK   FLJ40288   FMC1   FMC1-LUC7L2   GALNT11   GALNTL5   GBX1   GHET1   GIMAP1   GIMAP1-GIMAP5   GIMAP2   GIMAP4   GIMAP5   GIMAP6   GIMAP7   GIMAP8   GSTK1   H2BE1   HIPK2   HTR5A   HTR5A-AS1   INSIG1   IQCA1L   KCNH2   KDM7A   KDM7A-DT   KEL   KIAA1549   KLF14   KLHDC10   KLRG2   KMT2C   KRBA1   LINC-PINT   LINC00244   LINC00513   LINC00689   LINC00996   LINC01003   LINC01006   LINC01022   LINC01287   LLCFC1   LMBR1   LRGUK   LRRC61   LUC7L2   LUZP6   MEST   MESTIT1   MGAM   MGAM2   MIR10399   MIR11400   MIR153-2   MIR182   MIR183   MIR29A   MIR29B1   MIR335   MIR3654   MIR3907   MIR4468   MIR490   MIR548F4   MIR5707   MIR595   MIR6133   MIR6509   MIR671   MIR6892   MIR96   MKLN1   MKLN1-AS   MKRN1   MNX1   MNX1-AS1   MNX1-AS2   MRPS33   MTPN   MTRNR2L6   NCAPG2   NDUFB2   NDUFB2-AS1   NOBOX   NOM1   NOS3   NRF1   NUB1   NUP205   OR10AC1   OR2A1   OR2A1-AS1   OR2A12   OR2A14   OR2A2   OR2A25   OR2A42   OR2A5   OR2A7   OR2F1   OR2F2   OR6B1   OR6V1   OR9A2   OR9A4   PARP12   PAXIP1   PAXIP1-AS1   PAXIP1-AS2   PDIA4   PIP   PLXNA4   PODXL   PRKAG2   PRKAG2-AS1   PRSS1   PRSS2   PRSS37   PRSS58   PTN   PTPRN2   PTPRN2-AS1   RAB19   RARRES2   RBM33   REPIN1   REPIN1-AS1   RHEB   RNF32   RNF32-AS1   RNY1   RNY3   RNY4   RNY5   SHH   SLC13A4   SLC35B4   SLC37A3   SLC4A2   SMARCD3   SMKR1   SSBP1   SSMEM1   STMP1   STRA8   STRIP2   SVOPL   TAS2R3   TAS2R38   TAS2R39   TAS2R4   TAS2R40   TAS2R41   TAS2R5   TAS2R60   TBXAS1   TCAF1   TCAF2   TMEM139   TMEM139-AS1   TMEM140   TMEM176A   TMEM176B   TMEM178B   TMEM209   TMEM213   TMUB1   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   TRPV5   TRPV6   TRR-CCT4-1   TRS-AGA5-1   TSGA13   TTC26   UBE2H   UBE3C   UBN2   VIPR2   WDR86   WDR86-AS1   WDR91   WEE2   WEE2-AS1   XRCC2   ZBED6CL   ZC3HAV1   ZC3HAV1L   ZC3HC1   ZNF212   ZNF282   ZNF398   ZNF425   ZNF467   ZNF746   ZNF775   ZNF775-AS1   ZNF777   ZNF783   ZNF786   ZNF862   ZYX  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000007.14:g.(?_129310166)_(159282390_?)dup
Human AssemblyChrPosition (strand)Source
GRCh387129,310,166 - 159,282,390CLINVAR
GRCh377128,950,007 - 159,075,079CLINVAR
Build 367128,737,243 - 158,767,840CLINVAR
Cytogenetic Map77q32.1-36.3CLINVAR
Age Of Onset: neonatal/infancy
Prevalence: 1-5 / 10 000

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8617941
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-05-26
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.