Annotation Detail
Information
- Associated Genes
- HNF1A
- 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
- maturity-onset diabetes of the young type 3
- Source Database
- ClinVar
- Description
- NM_000545.8(HNF1A):c.815G>A (p.Arg272His) AND Maturity-onset diabetes of the young type 3
- ClinVar Allele ID
- 29970
- ClinVar RefSeq Alternation Syntax
- NM_000545.8:c.815G>A
- ClinVar RefSeq Alternation Syntax
- NM_001306179.2:c.815G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-08-25
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002288493
- ClinVar Disease
- Maturity-onset diabetes of the young type 3
- Observed Origin Sample
- germline
Drugs