Annotation Detail
Information
- Associated Genes
- HNF1A
- Associated Variants
-
HNF1A p.Arg590Gly (p.R590G)
(
ENST00000541395.5,
ENST00000257555.11,
ENST00000544413.2 )
HNF1A p.Arg590Gly (p.R590G) ( ENST00000257555.11, ENST00000541395.5, ENST00000544413.2 ) - Associated Disease
- type 1 diabetes mellitus 20
- Source Database
- ClinVar
- Description
- NM_000545.8(HNF1A):c.1747C>G (p.Arg583Gly) AND Type 1 diabetes mellitus 20
- ClinVar Allele ID
- 29971
- ClinVar RefSeq Alternation Syntax
- NM_001306179.2:c.1768C>G
- ClinVar RefSeq Alternation Syntax
- NM_000545.8:c.1747C>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1997-10-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000016069
- ClinVar Disease
- Type 1 diabetes mellitus 20
- Observed Origin Sample
- germline
- Pubmed
- 9313763
Drugs