Genomic variant #0001791313

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.49502567C>T
Reference Copied from the Exome Variant Server
DB-ID RUVBL2_000005
Frequency 1/12628
Freq. EA 0/8426
Freq. AA 1/4202
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
RUVBL2 NM_006666.1 ?/? c.13-9C>T r.(=) p.(=)