Annotation Detail
Information
- Associated Genes
- HNF1A C12orf43
- Associated Variants
-
HNF1A p.Thr627Ile (p.T627I)
(
ENST00000544413.2,
ENST00000288757.7,
ENST00000257555.11,
ENST00000541395.5 )
HNF1A p.Thr627Ile (p.T627I) ( ENST00000257555.11, ENST00000541395.5, ENST00000544413.2, ENST00000288757.7 ) - Associated Disease
- maturity-onset diabetes of the young type 3
- Source Database
- ClinVar
- Description
- NM_000545.8(HNF1A):c.1859C>T (p.Thr620Ile) AND Maturity-onset diabetes of the young type 3
- ClinVar Allele ID
- 29974
- ClinVar RefSeq Alternation Syntax
- NM_001306179.2:c.1880C>T
- ClinVar RefSeq Alternation Syntax
- NM_001286191.2:c.*2998G>A
- ClinVar RefSeq Alternation Syntax
- NM_001286196.2:c.*2998G>A
- ClinVar RefSeq Alternation Syntax
- NM_000545.8:c.1859C>T
- ClinVar RefSeq Alternation Syntax
- NM_022895.3:c.*2998G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 1999-09-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000016072
- ClinVar Disease
- Maturity-onset diabetes of the young type 3
- Observed Origin Sample
- germline
- Pubmed
- 10482964
Drugs