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Variant : CV803620 (GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3) Homo sapiens

Symbol: CV803620
Name: GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3
Condition: not provided [RCV001006388]
Clinical Significance: pathogenic
Last Evaluated: 04/15/2019
Review Status: no assertion criteria provided
Related Genes: ABCC8   ANO3   ANO5   BBOX1   BDNF-AS   C11orf58   CALCA   CALCB   CCDC179   CCDC34   COPB1   CSRP3   CYP2R1   DBX1   E2F8   FANCF   FIBIN   GAS2   GTF2H1   HPS5   HTATIP2   IGSF22   INSC   KCNC1   KCNJ11   LDHA   LDHAL6A   LDHC   LGR4   LIN7C   LUZP2   MRGPRX1   MRGPRX2   MRGPRX3   MRGPRX4   MUC15   MYOD1   NAV2   NCR3LG1   NELL1   NUCB2   OTOG   PDE3B   PIK3C2A   PLEKHA7   PRMT3   PSMA1   PTPN5   RPS13   RRAS2   SAA1   SAA2   SAA2-SAA4   SAA4   SAAL1   SERGEF   SLC17A6   SLC5A12   SLC6A5   SOX6   SPON1   SPTY2D1   SVIP   TMEM86A   TPH1   TSG101   UEVLD   USH1C   ZDHHC13  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh371113,970,757 - 27,565,888CLINVAR
Cytogenetic Map1111p15.2-14.1CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 25321759
Created: 2020-04-07
Species: Homo sapiens
Last Modified: 2020-06-30
Status: ACTIVE


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