Genomic variant #0001791384

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.49513736G>A
Reference Copied from the Exome Variant Server
DB-ID RUVBL2_000076
Frequency 1/12136
Freq. EA 1/8254
Freq. AA 0/3882
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
RUVBL2 NM_006666.1 ?/? c.664-9G>A r.(=) p.(=)