Genomic variant #0001791395

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.49514319G>A
Reference Copied from the Exome Variant Server
DB-ID RUVBL2_000087
Frequency 1/12724
Freq. EA 1/8484
Freq. AA 0/4240
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
RUVBL2 NM_006666.1 ?/? c.851G>A r.(?) p.(Arg284His)