Genomic variant #0001791400

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.49514413C>T
Reference Copied from the Exome Variant Server
DB-ID RUVBL2_000092
Frequency 2/12554
Freq. EA 2/8408
Freq. AA 0/4146
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
RUVBL2 NM_006666.1 ?/? c.883-36C>T r.(=) p.(=)