Annotation Detail
Information
- Associated Genes
- HLA-DQB1
- Associated Variants
-
HNF1A p.Arg272His (p.R272H)
(
ENST00000400024.6,
ENST00000257555.11,
ENST00000541395.5,
ENST00000544413.2 )
HNF1A p.Arg272His (p.R272H) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 ) - Associated Disease
- Diabetes Mellitus, Non-Insulin-Dependent
- Source Database
- DisGeNET
- Description
- A missense mutation of R272H (replacement of Arg by His in codon 272) in the DNA binding domain of HNF-1 alpha was found in a subject who developed IDDM 1 year after diagnosis of NIDDM at 8 years of age.
- Pubmed
- 9313763
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0510411366926542
- Year of publication
- 1997
Drugs