Genomic variant #0001791385

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.49513742T>C
Reference Copied from the Exome Variant Server
DB-ID RUVBL2_000077
Frequency 16/12186
Freq. EA 0/8274
Freq. AA 16/3912
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
RUVBL2 NM_006666.1 ?/? c.664-3T>C r.spl? p.?