Genomic variant #0001253595

Chromosome 12
DNA change (genomic) (Relative to hg19 / GRCh37) g.121416908C>T
Reference Copied from the Exome Variant Server
DB-ID HNF1A_000020
Frequency 1/12820
Freq. EA 1/8472
Freq. AA 0/4348
Owner Ivo F.A.C. Fokkema




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

DNA change (cDNA)     

RNA change     

Protein     
HNF1A NM_000545.5 ?/? c.326+11C>T r.(=) p.(=)