Genomic variant #0000289384

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.173423572A>C
Reference Copied from the Exome Variant Server
DB-ID PDK1_000005
Frequency 1/13006
Freq. EA 1/8600
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PDK1 NM_002610.3 ?/? c.333A>C r.(?) p.(Gln111His)