Genomic variant #0000289445

Chromosome 2
DNA change (genomic) (Relative to hg19 / GRCh37) g.173457619_173457620del
Reference Copied from the Exome Variant Server
DB-ID PDK1_000058
Frequency 10/12520
Freq. EA 7/8254
Freq. AA 3/4266
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
PDK1 NM_002610.3 ?/? c.1057-44_1057-43del r.(=) p.(=)