Annotation Detail
Information
- Associated Genes
- HNF1A
- Associated Variants
-
HNF1A p.Arg272His (p.R272H)
(
ENST00000400024.6,
ENST00000257555.11,
ENST00000541395.5,
ENST00000544413.2 )
HNF1A p.Arg590Gly (p.R590G) ( ENST00000541395.5, ENST00000257555.11, ENST00000544413.2 )
HNF1A p.Arg272His (p.R272H) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Arg590Gly (p.R590G) ( ENST00000257555.11, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Gly292ArgfsTer25 (p.G292Rfs*25)
HNF1A p.Gly292ArgfsTer25 (p.G292Rfs*25) - Associated Disease
- DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder)
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.36
- Year of publication
- NA
Drugs