Genomic variant #0001791319

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.49506575C>T
Reference Copied from the Exome Variant Server
DB-ID RUVBL2_000011
Frequency 2/12250
Freq. EA 0/8290
Freq. AA 2/3960
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
RUVBL2 NM_006666.1 ?/? c.107C>T r.(?) p.(Ala36Val)