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Variant : CV248102 (GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3) Homo sapiens

Symbol: CV248102
Name: GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3
Condition: See cases [RCV000240137]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: ACBD3   ADIPOR1   ADORA1   AIDA   ANGEL2   ARF1   ARL8A   ASCL5   ATF3   ATP2B4   ATP6V1G3   AVPR1B   BATF3   BPNT1   BROX   BTG2   BTNL10   C1orf115   C1orf116   C1orf147   C1orf35   C1orf53   C1orf74   C4BPA   C4BPB   CACNA1S   CAMK1G   CAMSAP2   CAPN2   CAPN8   CCDC185   CD34   CD46   CD55   CDC42BPA   CDK18   CENPF   CHI3L1   CHIT1   CNIH3   CNIH4   CNTN2   COQ8A   CR1   CR1L   CR2   CSRP1   CTSE   CYB5R1   DDX59   DEGS1   DISP1   DNAH14   DSTYK   DTL   DUSP10   DYRK3   EIF2D   ELF3   ELK4   ENAH   EPHX1   EPRS1   ESRRG   ETNK2   FAM177B   FAM71A   FAM72A   FBXO28   FCAMR   FCMR   FLVCR1   FLVCR1-DT   FMOD   G0S2   GJC2   GOLT1A   GPATCH2   GPR25   GPR37L1   GUK1   H2AW   H2BU1   H3-3A   H3-4   HHAT   HHIPL2   HLX   HSD11B1   IARS2   IBA57   IGFN1   IKBKE   IL10   IL19   IL20   IL24   INAVA   INTS7   IPO9   IRF6   ITPKB   JMJD4   KCNH1   KCNK2   KCTD3   KDM5B   KIF14   KIF21B   KISS1   KLHDC8A   KLHL12   LAD1   LAMB3   LAX1   LBR   LEFTY1   LEFTY2   LEMD1   LGR6   LHX9   LIN9   LINC00538   LMOD1   LPGAT1   LRRN2   LYPLAL1   MAPKAPK2   MARK1   MDM4   MFSD4A   MIA3   MIR181A1   MIR181B1   MIR194-1   MIR205   MIR205HG   MIR215   MIR29B2CHG   MIR29C   MIXL1   MRPL55   MTARC1   MTARC2   MYBPH   MYOG   NAV1   NEK2   NEK7   NENF   NFASC   NR5A2   NSL1   NUAK2   NUCKS1   NVL   OBSCN   OPTC   PACC1   PARP1   PCAT6   PFKFB2   PHLDA3   PIGR   PIK3C2B   PKP1   PLEKHA6   PLXNA2   PM20D1   PPFIA4   PPP1R12B   PPP1R15B   PPP2R5A   PRELP   PROX1   PRSS38   PSEN2   PTPN14   PTPN7   PTPRC   PYCR2   RAB29   RAB3GAP2   RABIF   RASSF5   RBBP5   RCOR3   RD3   REN   RHEX   RHOU   RNF187   RNPEP   RPS6KC1   RRP15   SDE2   SERTAD4   SHISA4   SLC26A9   SLC30A1   SLC30A10   SLC41A1   SLC45A3   SMYD2   SNAP47   SNRPE   SOX13   SPATA17   SPATA45   SRGAP2   SRP9   STUM   SUSD4   SYT14   SYT2   TAF1A   TATDN3   TGFB2   TIMM17A   TLR5   TMCC2   TMEM183A   TMEM63A   TMEM81   TMEM9   TNNI1   TNNT2   TP53BP2   TRAF3IP3   TRAF5   TRIM11   TRIM17   UBE2T   USH2A   UTP25   VASH2   WDR26   WNT3A   WNT9A   YOD1   ZBED6   ZC3H11A   ZNF281   ZNF678  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371197,811,907 - 228,997,888CLINVAR
Cytogenetic Map11q31.3-42.13CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11541584
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2019-10-08
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.