Genomic variant #0001253604

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.121426650G>A
Reference Copied from the Exome Variant Server
DB-ID HNF1A_000029
Frequency 3/13006
Freq. EA 1/8600
Freq. AA 2/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
HNF1A NM_000545.5 ?/? c.341G>A r.(?) p.(Arg114His)