Genomic variant #0001791361

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.49513194A>C
Reference Copied from the Exome Variant Server
DB-ID RUVBL2_000053
Frequency 2/12634
Freq. EA 0/8426
Freq. AA 2/4208
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
RUVBL2 NM_006666.1 ?/? c.570-36A>C r.(=) p.(=)