Annotation Detail
Information
- Associated Genes
- HNF1A
- Associated Variants
-
HNF1A p.Arg590Gln (p.R590Q)
(
ENST00000541395.5,
ENST00000257555.11,
ENST00000544413.2 )
HNF1A p.Arg590Gln (p.R590Q) ( ENST00000257555.11, ENST00000541395.5, ENST00000544413.2 ) - Associated Disease
- maturity-onset diabetes of the young type 3
- Source Database
- ClinVar
- Description
- NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) AND Maturity-onset diabetes of the young type 3
- ClinVar Allele ID
- 29979
- ClinVar RefSeq Alternation Syntax
- NM_001306179.2:c.1769G>A
- ClinVar RefSeq Alternation Syntax
- NM_000545.8:c.1748G>A
- Clinical Significance Description
- no classifications from unflagged records
- Clinical Significance Last Update
- 2023-11-02
- Clinical Significance Review Status
- no classifications from unflagged records
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000016078
- ClinVar Disease
- Maturity-onset diabetes of the young type 3
- Observed Origin Sample
- germline
- Pubmed
- 12355088
Drugs