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Variant : CV667530 (NM_032374.4:c.516-283A>C) Homo sapiens

Symbol: CV667530
Name: NM_032374.4:c.516-283A>C
Condition: not provided [RCV000828864]
Clinical Significance: likely benign
Last Evaluated: 06/14/2018
Review Status: criteria provided, single submitter
Related Genes: COA8  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NM_032374.4:c.516-283A>C
NC_000014.9:g.103589898A>C
Position
Human AssemblyChrPosition (strand)Source
GRCh3714104,056,235 - 104,056,235CLINVAR
Cytogenetic Map1414q32.33CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14713947
Created: 2019-09-06
Species: Homo sapiens
Last Modified: 2019-11-12
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.