Genomic variant #0001791391

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.49513880_49513884del
Reference Copied from the Exome Variant Server
DB-ID RUVBL2_000083
Frequency 84/11820
Freq. EA 25/7954
Freq. AA 59/3866
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
RUVBL2 NM_006666.1 ?/? c.787+12_787+16del r.(=) p.(=)