Genomic variant #0001791339

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.49510313G>A
Reference Copied from the Exome Variant Server
DB-ID RUVBL2_000031
Frequency 1/12432
Freq. EA 0/8346
Freq. AA 1/4086
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
RUVBL2 NM_006666.1 ?/? c.304G>A r.(?) p.(Ala102Thr)