Genomic variant #0000289400

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.173429262C>T
Reference Copied from the Exome Variant Server
DB-ID PDK1_000021
Frequency 2/13006
Freq. EA 1/8600
Freq. AA 1/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PDK1 NM_002610.3 ?/? c.442C>T r.(?) p.(Arg148*)