Genomic variant #0001791381

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.49513718C>T
Reference Copied from the Exome Variant Server
DB-ID RUVBL2_000073
Frequency 3/12090
Freq. EA 0/8224
Freq. AA 3/3866
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
RUVBL2 NM_006666.1 ?/? c.664-27C>T r.(=) p.(=)