Annotation Detail
Information
- Associated Genes
- HNF1A
- Associated Variants
-
HNF1A p.Leu562Phe (p.L562F)
(
ENST00000541395.5,
ENST00000257555.11,
ENST00000544413.2 )
HNF1A p.Leu562Phe (p.L562F) ( ENST00000257555.11, ENST00000541395.5, ENST00000544413.2 ) - Associated Disease
- Maturity onset diabetes mellitus in young
- Source Database
- ClinVar
- Description
- NM_000545.8(HNF1A):c.1663C>T (p.Leu555Phe) AND Maturity onset diabetes mellitus in young
- ClinVar Allele ID
- 45469
- ClinVar RefSeq Alternation Syntax
- NM_000545.8:c.1663C>T
- ClinVar RefSeq Alternation Syntax
- NM_001306179.2:c.1684C>T
- Clinical Significance Description
- Uncertain risk allele
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002463618
- ClinVar Disease
- Maturity onset diabetes mellitus in young
- Observed Origin Sample
- unknown
Drugs