Genomic variant #0001791340

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.49510316A>G
Reference Copied from the Exome Variant Server
DB-ID RUVBL2_000032
Frequency 1/12432
Freq. EA 0/8352
Freq. AA 1/4080
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
RUVBL2 NM_006666.1 ?/? c.307A>G r.(?) p.(Ile103Val)