Genomic variant #0001791401

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.49514414G>A
Reference Copied from the Exome Variant Server
DB-ID RUVBL2_000093
Frequency 2/12600
Freq. EA 0/8426
Freq. AA 2/4174
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
RUVBL2 NM_006666.1 ?/? c.883-35G>A r.(=) p.(=)