Genomic variant #0001791323

Chromosome 19
DNA change (genomic) (Relative to hg19 / GRCh37) g.49507509_49507511del
Reference Copied from the Exome Variant Server
DB-ID RUVBL2_000016
Frequency 1/11696
Freq. EA 0/7936
Freq. AA 1/3760
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
RUVBL2 NM_006666.1 ?/? c.124-25_124-23del r.(=) p.(=)