Annotation Detail
Information
- Associated Genes
- HNF1A
- Associated Variants
-
HNF1A p.Leu57TrpfsTer98 (p.L57Wfs*98)
(
ENST00000541395.5,
ENST00000544413.2,
ENST00000400024.6,
ENST00000257555.11 )
HNF1A p.Leu57TrpfsTer98 (p.L57Wfs*98) ( 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.169del (p.Leu57fs) AND Maturity onset diabetes mellitus in young
- ClinVar Allele ID
- 45470
- ClinVar RefSeq Alternation Syntax
- NM_000545.8:c.169del
- ClinVar RefSeq Alternation Syntax
- NM_001306179.2:c.169del
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002326703
- ClinVar Disease
- Maturity onset diabetes mellitus in young
- Observed Origin Sample
- unknown
Drugs