Annotation Detail
Information
- Associated Genes
- HNF1A
- Associated Variants
-
HNF1A p.? (p.?)
(
ENST00000257555.11,
ENST00000541395.5,
ENST00000400024.6,
ENST00000544413.2 )
HNF1A p.? (p.?) ( 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.1A>G (p.Met1Val) AND Maturity-onset diabetes of the young type 3
- ClinVar Allele ID
- 45475
- ClinVar RefSeq Alternation Syntax
- NM_001306179.2:c.1A>G
- ClinVar RefSeq Alternation Syntax
- NM_000545.8:c.1A>G
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2011-08-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000030495
- ClinVar Disease
- Maturity-onset diabetes of the young type 3
- Observed Origin Sample
- germline
Drugs