Annotation Detail
Information
- Associated Genes
- HNF1A
- Associated Variants
-
HNF1A p.Leu44TrpfsTer111 (p.L44Wfs*111)
(
ENST00000541395.5,
ENST00000257555.11,
ENST00000400024.6,
ENST00000544413.2 )
HNF1A p.Leu44TrpfsTer111 (p.L44Wfs*111) ( 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.130del (p.Leu44fs) AND Maturity onset diabetes mellitus in young
- ClinVar Allele ID
- 45459
- ClinVar RefSeq Alternation Syntax
- NM_000545.8:c.130del
- ClinVar RefSeq Alternation Syntax
- NM_001306179.2:c.130del
- Clinical Significance Description
- Pathogenic/Likely pathogenic
- Clinical Significance Last Update
- 2019-02-23
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002326697
- ClinVar Disease
- Maturity onset diabetes mellitus in young
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs