Annotation Detail
Information
- Associated Genes
- HNF1A
- Associated Variants
-
HNF1A p.Ala276Asp (p.A276D)
(
ENST00000541395.5,
ENST00000544413.2,
ENST00000257555.11,
ENST00000400024.6 )
HNF1A p.Ala276Asp (p.A276D) ( ENST00000257555.11, ENST00000400024.6, ENST00000541395.5, ENST00000544413.2 ) - Associated Disease
- Hyperinsulinism due to HNF1A deficiency
- Source Database
- ClinVar
- Description
- NM_000545.8(HNF1A):c.827C>A (p.Ala276Asp) AND Hyperinsulinism due to HNF1A deficiency
- ClinVar Allele ID
- 29984
- ClinVar RefSeq Alternation Syntax
- NM_001306179.2:c.827C>A
- ClinVar RefSeq Alternation Syntax
- NM_000545.8:c.827C>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-01-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002254266
- ClinVar Disease
- Hyperinsulinism due to HNF1A deficiency
- Observed Origin Sample
- germline
Drugs