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Variant : CV157298 (GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3) Homo sapiens

Symbol: CV157298
Name: GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3
Condition: See cases [RCV000136717]
Clinical Significance: pathogenic
Last Evaluated: 10/01/2010
Review Status: classified by single submitter|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   ARHGEF35-AS1   ARHGEF5   ARMC10   ARPC1A   ARPC1B   ASB10   ASB15   ASB15-AS1   ASIC3   ASNS   ASZ1   ATG9B   ATP5MF   ATP5MF-PTCD1   ATP6V0A4   ATP6V0E2   ATP6V0E2-AS1   ATP6V1F   ATP6V1FNB   ATXN7L1   AZGP1   BAIAP2L1   BCAP29   BHLHA15   BLACE   BMT2   BPGM   BRAF   BRI3   BUD31   C7orf33   C7orf61   C7orf66   C7orf77   CADPS2   CALD1   CALU   CAPZA2   CASP2   CASTOR3   CAV1   CAV2   CBLL1   CCDC136   CCDC71L   CDHR3   CDK5   CEP41   CFTR   CFTR-AS1   CHCHD3   CHPF2   CHRM2   CLCN1   CLDN15   CLEC2L   CLEC5A   CNOT4   CNPY1   CNPY4   CNTNAP2   CNTNAP2-AS1   COG5   COL26A1   COMETT   COPG2   COPG2IT1   COPS6   CPA1   CPA2   CPA4   CPA5   CPED1   CPSF4   CREB3L2   CREB3L2-AS1   CRYGN   CTAGE15   CTAGE4   CTAGE6   CTAGE8   CTTNBP2   CUL1   CUX1   CYP3A4   CYP3A43   CYP3A5   CYP3A7   CYP3A7-CYP3A51P   CYREN   CZ1P-ASNS   DENND11   DENND2A   DGKI   DLD   DNAJB6   DNAJB9   DNAJC2   DOCK4   DOCK4-AS1   DPP6   DUS4L   DUS4L-BCAP29   EFCAB10   EMSLR   EN2   EPHA1   EPHA1-AS1   EPHB4   EPHB6   EPO   ESYT2   EXOC4   EZH2   FAM131B   FAM180A   FAM185A   FAM200A   FAM3C   FAM71F1   FAM71F2   FASTK   FBXL13   FBXO24   FEZF1   FEZF1-AS1   FIS1   FLJ40288   FLNC   FLNC-AS1   FMC1   FMC1-LUC7L2   FOXP2   FSCN3   GAL3ST4   GALNT11   GALNTL5   GBX1   GCC1   GHET1   GIGYF1   GIMAP1   GIMAP1-GIMAP5   GIMAP2   GIMAP4   GIMAP5   GIMAP6   GIMAP7   GIMAP8   GJC3   GNB2   GPC2   GPR22   GPR37   GPR85   GRM8   GRM8-AS1   GSTK1   H2BE1   HBP1   HILPDA   HIPK2   HTR5A   HTR5A-AS1   HYAL4   IFRD1   IFT22   IMMP2L   IMPDH1   ING3   INSIG1   IQCA1L   IQUB   IRF5   KCND2   KCNH2   KCP   KDM7A   KDM7A-DT   KEL   KIAA1549   KLF14   KLHDC10   KLRG2   KMT2C   KMT2E   KMT2E-AS1   KPNA7   KRBA1   LAMB1   LAMB4   LAMTOR4   LEP   LHFPL3   LHFPL3-AS1   LHFPL3-AS2   LINC-PINT   LINC00244   LINC00513   LINC00996   LINC01000   LINC01003   LINC01004   LINC01006   LINC01007   LINC01022   LINC01287   LINC01392   LINC01393   LINC02476   LINC02830   LLCFC1   LMBR1   LMOD2   LMTK2   LNCPRESS1   LRCH4   LRGUK   LRRC17   LRRC4   LRRC61   LRRN3   LRWD1   LSM8   LSMEM1   LUC7L2   LUZP6   MAP11   MBLAC1   MCM7   MDFIC   MEPCE   MEST   MESTIT1   MET   METTL2B   MGAM   MGAM2   MIR10399   MIR106B   MIR11400   MIR12119   MIR129-1   MIR153-2   MIR182   MIR183   MIR25   MIR29A   MIR29B1   MIR335   MIR3609   MIR3654   MIR3666   MIR3907   MIR4285   MIR4467   MIR4468   MIR4653   MIR4658   MIR490   MIR5090   MIR548F4   MIR548O   MIR5692A1   MIR5692C2   MIR5707   MIR592   MIR593   MIR595   MIR6132   MIR6133   MIR6509   MIR671   MIR6840   MIR6875   MIR6892   MIR93   MIR96   MKLN1   MKLN1-AS   MKRN1   MNX1   MNX1-AS1   MNX1-AS2   MOGAT3   MOSPD3   MRPS33   MTPN   MTRNR2L6   MUC12   MUC12-AS1   MUC17   MUC3A   MYL10   NAMPT   NAPEPLD   NAT16   NCAPG2   NDUFA5   NDUFB2   NDUFB2-AS1   NFE4   NOBOX   NOM1   NOS3   NPTX2   NRCAM   NRF1   NUB1   NUP205   NYAP1   OCM2   OPN1SW   OR10AC1   OR2A1   OR2A1-AS1   OR2A12   OR2A14   OR2A2   OR2A25   OR2A42   OR2A5   OR2A7   OR2AE1   OR2F1   OR2F2   OR6B1   OR6V1   OR9A2   OR9A4   ORAI2   ORC5   PARP12   PAX4   PAXIP1   PAXIP1-AS1   PAXIP1-AS2   PCOLCE   PCOLCE-AS1   PDAP1   PDIA4   PIK3CG   PILRA   PILRB   PIP   PLOD3   PLXNA4   PMPCB   PNPLA8   PODXL   POLR2J   POLR2J2   POLR2J3   POP7   POT1   POT1-AS1   PPP1R35   PPP1R35-AS1   PPP1R3A   PRKAG2   PRKAG2-AS1   PRKAR2B   PRKRIP1   PRRT4   PRSS1   PRSS2   PRSS37   PRSS58   PSMC2   PTCD1   PTN   PTPRN2   PTPRZ1   PUS7   PVRIG   RAB19   RARRES2   RASA4   RASA4B   RBM28   RBM33   RELN   REPIN1   RHEB   RINT1   RNF133   RNF148   RNF32   RNY1   RNY3   RNY4   RNY5   SAP25   SCARNA28   SERPINE1   SH2B2   SHH   SLC12A9   SLC12A9-AS1   SLC13A1   SLC13A4   SLC26A3   SLC26A4   SLC26A4-AS1   SLC26A5   SLC35B4   SLC37A3   SLC4A2   SMARCD3   SMIM30   SMKR1   SMO   SMURF1   SND1   SND1-IT1   SNORA25B   SPAM1   SPDYE2   SPDYE2B   SPDYE3   SPDYE6   SRPK2   SRRT   SSBP1   SSMEM1   ST7   ST7-AS1   ST7-AS2   ST7-OT3   ST7-OT4   STAG3   STAG3L5P-PVRIG2P-PILRB   STMP1   STRA8   STRIP2   SVOPL   SYPL1   TAC1   TAF6   TAS2R16   TAS2R3   TAS2R38   TAS2R39   TAS2R4   TAS2R40   TAS2R41   TAS2R5   TAS2R60   TBXAS1   TCAF1   TCAF2   TECPR1   TES   TFEC   TFR2   THAP5   TMEM130   TMEM139   TMEM140   TMEM168   TMEM176A   TMEM176B   TMEM178B   TMEM209   TMEM213   TMEM225B   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   TRIM4   TRIM56   TRIP6   TRP-AGG2-3   TRPV5   TRPV6   TRR-CCT4-1   TRRAP   TRS-AGA5-1   TRW-CCA5-1   TSC22D4   TSGA13   TSPAN12   TSPAN33   TTC26   UBE2H   UBE3C   UBN2   UFSP1   UPK3BL1   UPK3BL2   VGF   WASL   WDR60   WDR86   WDR86-AS1   WDR91   WEE2   WEE2-AS1   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
HGVS Name(s): NC_000007.13:g.(?_97049164)_(158716453_?)dup
NC_000007.12:g.(?_96887100)_(158409214_?)dup
NC_000007.14:g.(?_97419852)_(158923762_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38797,419,852 - 158,923,762CLINVAR
GRCh37797,049,164 - 158,716,453CLINVAR
Build 36796,887,100 - 158,409,214CLINVAR
Cytogenetic Map77q21.3-36.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9484278
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.