Annotation Detail
Information
- Associated Genes
- GCKR
- Associated Variants
-
GCKR p.Leu446Pro (p.L446P)
(
ENST00000264717.7 )
GCKR p.Leu446Pro (p.L446P) ( ENST00000264717.7 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001486.4(GCKR):c.1337T>C (p.Leu446Pro) AND not provided
- ClinVar Allele ID
- 23790
- ClinVar RefSeq Alternation Syntax
- NM_001486.4:c.1337T>C
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001618209
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs