Genomic variant #0001791350

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.49510690T>C
Reference Copied from the Exome Variant Server
DB-ID RUVBL2_000042
Frequency 21/4566
Freq. EA 0/3182
Freq. AA 21/1384
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
RUVBL2 NM_006666.1 ?/? c.462+65T>C r.(=) p.(=)