Annotation Detail
Information
- Associated Genes
- HNF1A
- Associated Variants
-
HNF1A p.Pro447Leu (p.P447L)
(
ENST00000257555.11,
ENST00000400024.6,
ENST00000541395.5,
ENST00000544413.2 )
HNF1A p.Pro447Leu (p.P447L) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 ) - Associated Disease
- Maturity onset diabetes mellitus in young
- Source Database
- ClinVar
- Description
- NM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu) AND Maturity onset diabetes mellitus in young
- ClinVar Allele ID
- 29967
- ClinVar RefSeq Alternation Syntax
- NM_000545.8:c.1340C>T
- ClinVar RefSeq Alternation Syntax
- NM_001306179.2:c.1340C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2021-05-26
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001526899
- ClinVar Disease
- Maturity onset diabetes mellitus in young
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs