Genomic variant #0001791380

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.49513716G>A
Reference Copied from the Exome Variant Server
DB-ID RUVBL2_000072
Frequency 645/12086
Freq. EA 572/8224
Freq. AA 73/3862
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
RUVBL2 NM_006666.1 ?/? c.664-29G>A r.(=) p.(=)