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Variant : CV672736 (GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3) Homo sapiens

Symbol: CV672736
Name: GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3
Condition: not provided [RCV000845852]
Clinical Significance: pathogenic
Last Evaluated: 01/25/2018
Review Status: no assertion criteria provided
Related Genes: ABCB10   ACBD3   ACTA1   ACTN2   ADIPOR1   ADORA1   ADSS2   AGT   AHCTF1   AIDA   AKT3   ANGEL2   APOBEC4   ARF1   ARID4B   ARL8A   ARPC5   ARV1   ASCL5   ASPM   ATF3   ATP2B4   ATP6V1G3   AVPR1B   B3GALNT2   B3GALT2   BATF3   BPNT1   BRINP3   BROX   BTG2   BTNL10   C1orf100   C1orf115   C1orf116   C1orf131   C1orf147   C1orf198   C1orf21   C1orf229   C1orf35   C1orf53   C1orf74   C4BPA   C4BPB   CACNA1S   CAMK1G   CAMSAP2   CAPN2   CAPN8   CAPN9   CATSPERE   CCDC185   CCSAP   CD34   CD46   CD55   CDC42BPA   CDC73   CDK18   CENPF   CEP170   CFH   CFHR1   CFHR2   CFHR3   CFHR4   CFHR5   CHI3L1   CHIT1   CHML   CHRM3   CNIH3   CNIH4   CNST   CNTN2   COA6   COG2   COLGALT2   COQ8A   COX20   CR1   CR1L   CR2   CRB1   CSRP1   CTSE   CYB5R1   DDX59   DEGS1   DENND1B   DESI2   DHX9   DISC1   DISC2   DISP1   DNAH14   DSTYK   DTL   DUSP10   DYRK3   EDARADD   EDEM3   EFCAB2   EGLN1   EIF2D   ELF3   ELK4   ENAH   EPHX1   EPRS1   ERO1B   ESRRG   ETNK2   EXO1   EXOC8   F13B   FAM177B   FAM71A   FAM72A   FAM89A   FBXO28   FCAMR   FCMR   FH   FLVCR1   FLVCR1-DT   FMN2   FMOD   G0S2   GALNT2   GCSAML   GGPS1   GJC2   GLRX2   GNG4   GNPAT   GOLT1A   GPATCH2   GPR137B   GPR25   GPR37L1   GREM2   GUK1   H2AW   H2BU1   H3-3A   H3-4   HEATR1   HHAT   HHIPL2   HLX   HMCN1   HNRNPU   HSD11B1   IARS2   IBA57   IGFN1   IKBKE   IL10   IL19   IL20   IL24   INAVA   INTS7   IPO9   IRF2BP2   IRF6   ITPKB   IVNS1ABP   JMJD4   KCNH1   KCNK1   KCNK2   KCNT2   KCTD3   KDM5B   KIF14   KIF21B   KIF26B   KISS1   KLHDC8A   KLHL12   KMO   LAD1   LAMB3   LAMC1   LAMC2   LAX1   LBR   LEFTY1   LEFTY2   LEMD1   LGALS8   LGR6   LHX9   LIN9   LINC00538   LMOD1   LPGAT1   LRRN2   LYPD8   LYPLAL1   LYST   MAP10   MAP1LC3C   MAP3K21   MAPKAPK2   MARK1   MDM4   MFSD4A   MIA3   MIR181A1   MIR181B1   MIR194-1   MIR205   MIR205HG   MIR215   MIR29B2CHG   MIR29C   MIXL1   MRPL55   MT1HL1   MTARC1   MTARC2   MTR   MYBPH   MYOG   NAV1   NCF2   NEK2   NEK7   NENF   NFASC   NIBAN1   NID1   NLRP3   NMNAT2   NPL   NR5A2   NSL1   NTPCR   NUAK2   NUCKS1   NUP133   NVL   OBSCN   ODR4   OPN3   OPTC   OR11L1   OR13G1   OR14A16   OR14C36   OR14I1   OR1C1   OR2AK2   OR2B11   OR2C3   OR2G2   OR2G3   OR2G6   OR2L13   OR2L2   OR2L3   OR2L5   OR2L8   OR2M2   OR2M3   OR2M4   OR2M5   OR2M7   OR2T1   OR2T10   OR2T11   OR2T12   OR2T2   OR2T27   OR2T29   OR2T3   OR2T33   OR2T34   OR2T35   OR2T4   OR2T5   OR2T6   OR2T8   OR2W3   OR2W5   OR6F1   PACC1   PARP1   PCAT6   PCNX2   PDC   PFKFB2   PGBD5   PHLDA3   PIGR   PIK3C2B   PKP1   PLA2G4A   PLD5   PLEKHA6   PLXNA2   PM20D1   PPFIA4   PPP1R12B   PPP1R15B   PPP2R5A   PRELP   PRG4   PROX1   PRSS38   PSEN2   PTGS2   PTPN14   PTPN7   PTPRC   PYCR2   RAB29   RAB3GAP2   RAB4A   RABIF   RASSF5   RBBP5   RBM34   RCOR3   RD3   REN   RGL1   RGS1   RGS13   RGS16   RGS18   RGS2   RGS21   RGS7   RGS8   RGSL1   RHEX   RHOU   RNASEL   RNF187   RNF2   RNPEP   RO60   RPS6KC1   RRP15   RYR2   SCCPDH   SDCCAG8   SDE2   SERTAD4   SH3BP5L   SHCBP1L   SHISA4   SIPA1L2   SLC26A9   SLC30A1   SLC30A10   SLC35F3   SLC41A1   SLC45A3   SMG7   SMYD2   SMYD3   SNAP47   SNRPE   SOX13   SPATA17   SPATA45   SPRTN   SRGAP2   SRP9   STUM   SUSD4   SWT1   SYT14   SYT2   TAF1A   TAF5L   TARBP1   TATDN3   TBCE   TFB2M   TGFB2   TIMM17A   TLR5   TMCC2   TMEM183A   TMEM63A   TMEM81   TMEM9   TNNI1   TNNT2   TOMM20   TP53BP2   TPR   TRAF3IP3   TRAF5   TRIM11   TRIM17   TRIM58   TRIM67   TRMT1L   TSEN15   TSNAX   TTC13   UBE2T   UCHL5   URB2   USH2A   UTP25   VASH2   VN1R5   WDR26   WDR64   WNT3A   WNT9A   YOD1   ZBED6   ZBTB18   ZBTB41   ZC3H11A   ZNF124   ZNF281   ZNF496   ZNF669   ZNF670   ZNF678   ZNF695   ZP4  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371182,388,773 - 249,111,240CLINVAR
Cytogenetic Map11q25.3-44CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14977237
Created: 2019-10-08
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.