Genomic variant #0001791399

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.49514400G>A
Reference Copied from the Exome Variant Server
DB-ID RUVBL2_000091
Frequency 3/12364
Freq. EA 2/8322
Freq. AA 1/4042
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
RUVBL2 NM_006666.1 ?/? c.883-49G>A r.(=) p.(=)