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Variant : CV555067 (GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3) Homo sapiens

Symbol: CV555067
Name: GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3
Condition: not provided [RCV000683372]
Clinical Significance: pathogenic
Last Evaluated: 11/13/2017
Review Status: no assertion criteria provided
Related Genes: ADM   AKIP1   AMPD3   ANO9   AP2A2   APBB1   ARFIP2   ARNTL   ART1   ART5   ASCL2   ASCL3   B4GALNT4   BRSK2   BTBD10   C11orf16   C11orf21   C11orf40   C11orf42   C11orf58   CALCA   CALCB   CARS1   CAVIN3   CCKBR   CD151   CD81   CDHR5   CDKN1C   CEND1   CHID1   CHRNA10   CNGA4   COPB1   CRACR2B   CSNK2A3   CTR9   CTSD   CYB5R2   CYP2R1   DCHS1   DEAF1   DENND2B   DENND5A   DKK3   DNHD1   DRD4   DUSP8   EIF3F   EIF4G2   EPS8L2   FAM160A2   FAR1   GALNT18   GATD1   H19   HBB   HBD   HBE1   HBG1   HBG2   HPX   HRAS   IFITM1   IFITM10   IFITM2   IFITM3   IFITM5   IGF2   IGF2-AS   ILK   INS   INS-IGF2   INSC   IPO7   IRAG1   IRF7   KCNQ1   KCNQ1DN   KCNQ1OT1   KRTAP5-1   KRTAP5-2   KRTAP5-3   KRTAP5-4   KRTAP5-5   KRTAP5-6   LMNTD2   LMNTD2-AS1   LMO1   LRRC56   LSP1   LYVE1   MICAL2   MICALCL   MIR210   MIR210HG   MMP26   MOB2   MRGPRE   MRGPRG   MRPL17   MRPL23   MTRNR2L8   MUC2   MUC5AC   MUC5B   MUC6   NAP1L4   NLRP10   NLRP14   NLRP6   NRIP3   NUP98   OLFML1   OR10A2   OR10A3   OR10A4   OR10A5   OR10A6   OR2AG1   OR2AG2   OR2D2   OR2D3   OR51A2   OR51A4   OR51A7   OR51B2   OR51B4   OR51B5   OR51B6   OR51D1   OR51E1   OR51E2   OR51F1   OR51F2   OR51G1   OR51G2   OR51I1   OR51I2   OR51L1   OR51M1   OR51Q1   OR51S1   OR51T1   OR51V1   OR52A1   OR52A5   OR52B2   OR52B4   OR52B6   OR52D1   OR52E2   OR52E4   OR52E6   OR52E8   OR52H1   OR52I1   OR52I2   OR52J3   OR52K1   OR52K2   OR52L1   OR52M1   OR52N1   OR52N2   OR52N4   OR52N5   OR52R1   OR52W1   OR56A1   OR56A3   OR56A4   OR56A5   OR56B1   OR56B4   OR5P2   OR5P3   OR6A2   OSBPL5   OVCH2   PARVA   PDE3B   PGAP2   PGGHG   PHLDA2   PHRF1   PIDD1   PKP3   PLEKHA7   PNPLA2   POLR2L   PPFIBP2   PSMA1   PSMD13   PTDSS2   PTH   RASSF10   RASSF7   RBMXL2   RHOG   RIC3   RNF141   RNH1   RPL27A   RPLP2   RPS13   RRAS2   RRM1   RRP8   SBF2   SCT   SCUBE2   SIGIRR   SIRT3   SLC22A18   SLC22A18AS   SLC25A22   SMPD1   SNORA3B   SOX6   SPON1   STIM1   STK33   SWAP70   SYT8   SYT9   TAF10   TALDO1   TEAD1   TH   TIMM10B   TMEM41B   TMEM80   TMEM9B   TNNI2   TNNT3   TOLLIP   TPP1   TRIM21   TRIM22   TRIM3   TRIM34   TRIM5   TRIM6   TRIM66   TRIM68   TRPM5   TSPAN32   TSPAN4   TSSC4   TUB   UBQLN3   UBQLNL   USP47   WEE1   ZBED5   ZNF143   ZNF195   ZNF214   ZNF215  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh3711230,615 - 17,099,213CLINVAR
Cytogenetic Map1111p15.5-15.1CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 13796536
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-09-22
Status: ACTIVE


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