Genomic variant #0001791389

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.49513866C>T
Reference Copied from the Exome Variant Server
DB-ID RUVBL2_000081
Frequency 1/12652
Freq. EA 0/8440
Freq. AA 1/4212
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
RUVBL2 NM_006666.1 ?/? c.785C>T r.(?) p.(Ser262Leu)