Genomic variant #0001791376

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.49513328G>A
Reference Copied from the Exome Variant Server
DB-ID RUVBL2_000068
Frequency 3/12040
Freq. EA 3/8212
Freq. AA 0/3828
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
RUVBL2 NM_006666.1 ?/? c.663+5G>A r.spl? p.?