Genomic variant #0001253626

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.121432125C>T
Reference Copied from the Exome Variant Server
DB-ID HNF1A_000051
Frequency 1/13002
Freq. EA 1/8596
Freq. AA 0/4406
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
HNF1A NM_000545.5 ?/? c.872C>T r.(?) p.(Pro291Leu)