Genomic variant #0001791402

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.49514415C>T
Reference Copied from the Exome Variant Server
DB-ID RUVBL2_000094
Frequency 1/12608
Freq. EA 1/8430
Freq. AA 0/4178
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
RUVBL2 NM_006666.1 ?/? c.883-34C>T r.(=) p.(=)