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Variant : CV248053 (GRCh37/hg19 15q24.1-24.2(chr15:72998989-76069787)x3) Homo sapiens

Symbol: CV248053
Name: GRCh37/hg19 15q24.1-24.2(chr15:72998989-76069787)x3
Condition: See cases [RCV000240066]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: ADPGK   ARID3B   BBS4   C15orf39   CCDC33   CD276   CLK3   COMMD4   COX5A   CPLX3   CSK   CSPG4   CYP11A1   CYP1A1   CYP1A2   EDC3   FAM219B   GOLGA6A   GOLGA6C   GOLGA6D   HCN4   IMP3   INSYN1   ISLR   ISLR2   LMAN1L   LOXL1   MAN2C1   MPI   NEIL1   NEO1   NPTN   ODF3L1   PML   PPCDC   PTPN9   REC114   RPP25   SCAMP2   SCAMP5   SEMA7A   SIN3A   SNUPN   SNX33   STOML1   STRA6   TBC1D21   UBL7   ULK3  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000015.9:g.(?_72998989)_(76069787_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh371572,998,989 - 76,069,787CLINVAR
Cytogenetic Map1515q24.1-24.2CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11541526
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2019-06-18
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.