Genomic variant #0001791406

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.49514484C>G
Reference Copied from the Exome Variant Server
DB-ID RUVBL2_000098
Frequency 1/12884
Freq. EA 1/8558
Freq. AA 0/4326
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
RUVBL2 NM_006666.1 ?/? c.918C>G r.(?) p.(Ile306Met)