Genomic variant #0001791317

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.49502646C>A
Reference Copied from the Exome Variant Server
DB-ID RUVBL2_000009
Frequency 1/12528
Freq. EA 0/8382
Freq. AA 1/4146
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
RUVBL2 NM_006666.1 ?/? c.67+16C>A r.(=) p.(=)