Genomic variant #0001791360

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.49513187T>C
Reference Copied from the Exome Variant Server
DB-ID RUVBL2_000052
Frequency 2/12636
Freq. EA 2/8420
Freq. AA 0/4216
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
RUVBL2 NM_006666.1 ?/? c.570-43T>C r.(=) p.(=)