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Variant : CV613866 (GRCh37/hg19 12q21.31-21.32(chr12:82183041-88755577)) Homo sapiens

Symbol: CV613866
Name: GRCh37/hg19 12q21.31-21.32(chr12:82183041-88755577)
Condition: not provided [RCV000767570]
Clinical Significance: pathogenic
Last Evaluated: 11/01/2018
Review Status: criteria provided, single submitter
Related Genes: ALX1   C12orf29   C12orf50   CCDC59   CEP290   LRRIQ1   METTL25   MGAT4C   NTS   RASSF9   SLC6A15   TMTC2   TMTC3   TSPAN19  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371282,183,041 - 88,755,577CLINVAR
Cytogenetic Map1212q21.31-21.32CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14399537
Created: 2019-05-07
Species: Homo sapiens
Last Modified: 2020-05-19
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.