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Variant : CV803619 (GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3) Homo sapiens

Symbol: CV803619
Name: GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3
Condition: not provided [RCV001006387]
Clinical Significance: pathogenic
Last Evaluated: 09/18/2018
Review Status: no assertion criteria provided
Related Genes: ABCC8   ABTB2   ANO3   ANO5   ARL14EP   ARNTL   BBOX1   BDNF   BDNF-AS   BTBD10   C11orf58   C11orf91   CALCA   CALCB   CAPRIN1   CAT   CCDC179   CCDC34   CCDC73   CD59   COPB1   CSNK2A3   CSRP3   CSTF3   CYP2R1   DBX1   DCDC1   DEPDC7   DKK3   DNAJC24   E2F8   EHF   EIF3M   ELF5   ELP4   FANCF   FAR1   FBXO3   FIBIN   FSHB   GALNT18   GAS2   GTF2H1   HIPK3   HPS5   HTATIP2   IGSF22   IMMP1L   INSC   KCNA4   KCNC1   KCNJ11   KIAA1549L   KIF18A   LDHA   LDHAL6A   LDHC   LGR4   LIN7C   LINC00294   LMO2   LUZP2   METTL15   MICAL2   MICALCL   MIR610   MPPED2   MRGPRX1   MRGPRX2   MRGPRX3   MRGPRX4   MUC15   MYOD1   NAT10   NAV2   NCR3LG1   NELL1   NUCB2   OTOG   PARVA   PAX6   PDE3B   PIK3C2A   PLEKHA7   PRMT3   PRRG4   PSMA1   PTH   PTPN5   QSER1   RASSF10   RCN1   RPS13   RRAS2   SAA1   SAA2   SAA2-SAA4   SAA4   SAAL1   SERGEF   SLC17A6   SLC5A12   SLC6A5   SOX6   SPON1   SPTY2D1   SVIP   TCP11L1   TEAD1   TMEM86A   TPH1   TSG101   UEVLD   USH1C   USP47   WT1   WT1-AS   ZDHHC13  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371111,053,978 - 34,732,891CLINVAR
Cytogenetic Map1111p15.3-13CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 25321737
Created: 2020-04-07
Species: Homo sapiens
Last Modified: 2020-06-23
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.