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Variant : CV435377 (GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3) Homo sapiens

Symbol: CV435377
Name: GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3
Condition: See cases [RCV000511561]
Clinical Significance: pathogenic
Last Evaluated: 06/23/2014
Review Status: no assertion criteria provided
Related Genes: ABCC8   ABTB2   ADM   AKIP1   AMPD3   ANO3   ANO5   ANO9   AP2A2   APBB1   APIP   ARFIP2   ARL14EP   ARNTL   ART1   ART5   ASCL2   ASCL3   B4GALNT4   BBOX1   BDNF   BDNF-AS   BRSK2   BTBD10   C11orf16   C11orf21   C11orf40   C11orf42   C11orf58   C11orf91   CALCA   CALCB   CAPRIN1   CARS1   CAT   CAVIN3   CCDC179   CCDC34   CCDC73   CCKBR   CD151   CD44   CD59   CD81   CDHR5   CDKN1C   CEND1   CHID1   CHRNA10   CNGA4   COMMD9   COPB1   CRACR2B   CSNK2A3   CSRP3   CSTF3   CTR9   CTSD   CYB5R2   CYP2R1   DBX1   DCDC1   DCHS1   DEAF1   DENND2B   DENND5A   DEPDC7   DKK3   DNAJC24   DNHD1   DRD4   DUSP8   E2F8   EHF   EIF3F   EIF3M   EIF4G2   ELF5   ELP4   EPS8L2   FAM160A2   FANCF   FAR1   FBXO3   FIBIN   FJX1   FSHB   GALNT18   GAS2   GATD1   GTF2H1   H19   HBB   HBD   HBE1   HBG1   HBG2   HIPK3   HPS5   HPX   HRAS   HTATIP2   IFITM1   IFITM10   IFITM2   IFITM3   IFITM5   IFTAP   IGF2   IGF2-AS   IGSF22   ILK   IMMP1L   INS   INS-IGF2   INSC   IPO7   IRF7   KCNA4   KCNC1   KCNJ11   KCNQ1   KCNQ1DN   KCNQ1OT1   KIAA1549L   KIF18A   KRTAP5-1   KRTAP5-2   KRTAP5-3   KRTAP5-4   KRTAP5-5   KRTAP5-6   LDHA   LDHAL6A   LDHC   LDLRAD3   LGR4   LIN7C   LINC00294   LMNTD2   LMNTD2-AS1   LMO1   LMO2   LRRC56   LSP1   LUZP2   LYVE1   METTL15   MICAL2   MICALCL   MIR210   MIR210HG   MIR610   MMP26   MOB2   MPPED2   MRGPRE   MRGPRG   MRGPRX1   MRGPRX2   MRGPRX3   MRGPRX4   MRPL17   MRPL23   MRVI1   MTRNR2L8   MUC15   MUC2   MUC5AC   MUC5B   MUC6   MYOD1   NAP1L4   NAT10   NAV2   NCR3LG1   NELL1   NLRP10   NLRP14   NLRP6   NRIP3   NUCB2   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   OTOG   OVCH2   PAMR1   PARVA   PAX6   PDE3B   PDHX   PGAP2   PGGHG   PHLDA2   PHRF1   PIDD1   PIK3C2A   PKP3   PLEKHA7   PNPLA2   POLR2L   PPFIBP2   PRMT3   PRR5L   PRRG4   PSMA1   PSMD13   PTDSS2   PTH   PTPN5   QSER1   RAG1   RAG2   RASSF10   RASSF7   RBMXL2   RCN1   RHOG   RIC3   RNF141   RNH1   RPL27A   RPLP2   RPS13   RRAS2   RRM1   RRP8   SAA1   SAA2   SAA2-SAA4   SAA4   SAAL1   SBF2   SCT   SCUBE2   SERGEF   SIGIRR   SIRT3   SLC17A6   SLC1A2   SLC22A18   SLC22A18AS   SLC25A22   SLC5A12   SLC6A5   SMPD1   SNORA3B   SOX6   SPON1   SPTY2D1   STIM1   STK33   SVIP   SWAP70   SYT8   SYT9   TAF10   TALDO1   TCP11L1   TEAD1   TH   TIMM10B   TMEM41B   TMEM80   TMEM86A   TMEM9B   TNNI2   TNNT3   TOLLIP   TPH1   TPP1   TRAF6   TRIM21   TRIM22   TRIM3   TRIM34   TRIM44   TRIM5   TRIM6   TRIM66   TRIM68   TRPM5   TSG101   TSPAN32   TSPAN4   TSSC4   TUB   UBQLN3   UBQLNL   UEVLD   USH1C   USP47   WEE1   WT1   WT1-AS   ZBED5   ZDHHC13   ZNF143   ZNF195   ZNF214   ZNF215  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh3711230,615 - 37,698,540CLINVAR
Cytogenetic Map1111p15.5-12CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13444531
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2020-03-24
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.