Genomic variant #0001791335

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.49510243G>A
Reference Copied from the Exome Variant Server
DB-ID RUVBL2_000027
Frequency 2/12526
Freq. EA 0/8374
Freq. AA 2/4152
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
RUVBL2 NM_006666.1 ?/? c.266-32G>A r.(=) p.(=)