Annotation Detail
Information
- Associated Genes
- HNF1A
- Associated Variants
-
HNF1A p.Ser581Gly (p.S581G)
(
ENST00000544413.2,
ENST00000257555.11,
ENST00000541395.5 )
HNF1A p.Ser581Gly (p.S581G) ( ENST00000257555.11, ENST00000541395.5, ENST00000544413.2 ) - Associated Disease
- maturity-onset diabetes of the young type 3 type 1 diabetes mellitus 20 Hepatic adenomas, familial type 2 diabetes mellitus nonpapillary renal cell carcinoma Diabetes mellitus type 1
- Source Database
- ClinVar
- Description
- NM_000545.8(HNF1A):c.1720A>G (p.Ser574Gly) AND multiple conditions
- ClinVar Allele ID
- 45471
- ClinVar RefSeq Alternation Syntax
- NM_000545.8:c.1720A>G
- ClinVar RefSeq Alternation Syntax
- NM_001306179.2:c.1741A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-09-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002504835
- ClinVar Disease
- Nonpapillary renal cell carcinoma
- ClinVar Disease
- Maturity-onset diabetes of the young type 3
- ClinVar Disease
- Type 2 diabetes mellitus
- ClinVar Disease
- Diabetes mellitus type 1
- ClinVar Disease
- Type 1 diabetes mellitus 20
- ClinVar Disease
- Hepatic adenomas, familial
- Observed Origin Sample
- unknown
Drugs