Annotation Detail
Information
- Associated Genes
- HNF1A
- Associated Variants
-
HNF1A p.Ile27Leu (p.I27L)
(
ENST00000541395.5,
ENST00000257555.11,
ENST00000400024.6,
ENST00000544413.2 )
HNF1A p.Pro224Ser (p.P224S) ( ENST00000257555.11, ENST00000400024.6, ENST00000544413.2, ENST00000541395.5 )
HNF1A p.Ile27Leu (p.I27L) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 )
HNF1A p.Pro224Ser (p.P224S) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 ) - Associated Disease
- Maturity onset diabetes mellitus in young
- Source Database
- DisGeNET
- Description
- A new mutation in the hepatocyte nuclear factor-1-alpha gene (P224S) in a newly discovered German family with maturity-onset diabetes of the young 3 (MODY 3). Family members carry additionally the homozygous I27L amino acid polymorphism in the HNF1 alpha gene.
- Pubmed
- 15031772
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0290442803125925
- Year of publication
- 2004
Drugs