Genomic variant #0001791354

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.49513086C>T
Reference Copied from the Exome Variant Server
DB-ID RUVBL2_000046
Frequency 5/12560
Freq. EA 0/8408
Freq. AA 5/4152
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
RUVBL2 NM_006666.1 ?/? c.516C>T r.(=) p.(=)