Genomic variant #0000289431

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.173435403_173435404del
Reference Copied from the Exome Variant Server
DB-ID PDK1_000052
Frequency 23/12520
Freq. EA 23/8254
Freq. AA 0/4266
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PDK1 NM_002610.3 ?/? c.847-51_847-50del r.(=) p.(=)