Genomic variant #0001791383

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.49513733C>T
Reference Copied from the Exome Variant Server
DB-ID RUVBL2_000075
Frequency 6/12114
Freq. EA 0/8236
Freq. AA 6/3878
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
RUVBL2 NM_006666.1 ?/? c.664-12C>T r.(=) p.(=)