Genomic variant #0000289422

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.173431672_173431674del
Reference Copied from the Exome Variant Server
DB-ID PDK1_000043
Frequency 1/12518
Freq. EA 0/8252
Freq. AA 1/4266
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PDK1 NM_002610.3 ?/? c.769+11_769+13del r.(=) p.(=)