Annotation Detail
Information
- Associated Genes
- HNF1A
- Associated Variants
-
HNF1A p.His589Arg (p.H589R)
(
ENST00000541395.5,
ENST00000257555.11,
ENST00000544413.2 )
HNF1A p.His589Arg (p.H589R) ( ENST00000257555.11, ENST00000541395.5, ENST00000544413.2 ) - Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NM_000545.8(HNF1A):c.1745A>G (p.His582Arg) AND not specified
- ClinVar Allele ID
- 45472
- ClinVar RefSeq Alternation Syntax
- NM_001306179.2:c.1766A>G
- ClinVar RefSeq Alternation Syntax
- NM_000545.8:c.1745A>G
- Clinical Significance Description
- Likely benign
- Clinical Significance Last Update
- 2023-08-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003330402
- ClinVar Disease
- not specified
- Observed Origin Sample
- germline
Drugs