Genomic variant #0001791346

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.49510511C>T
Reference Copied from the Exome Variant Server
DB-ID RUVBL2_000038
Frequency 1/12248
Freq. EA 1/8300
Freq. AA 0/3948
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
RUVBL2 NM_006666.1 ?/? c.396-48C>T r.(=) p.(=)