Annotation Detail
Information
- Associated Genes
- GCKR
- Associated Variants
-
GCKR p.Leu446Pro (p.L446P)
(
ENST00000264717.7 )
GCKR p.Leu446Pro (p.L446P) ( ENST00000264717.7 ) - Associated Disease
- Fasting plasma glucose level quantitative trait locus 5
- Source Database
- ClinVar
- Description
- NM_001486.4(GCKR):c.1337T>C (p.Leu446Pro) AND Fasting plasma glucose level quantitative trait locus 5
- ClinVar Allele ID
- 23790
- ClinVar RefSeq Alternation Syntax
- NM_001486.4:c.1337T>C
- Clinical Significance Description
- association
- Clinical Significance Last Update
- 2010-02-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000009294
- ClinVar Disease
- Fasting plasma glucose level quantitative trait locus 5
- Observed Origin Sample
- germline
- Pubmed
- 18678614
- Pubmed
- 19643913
- Pubmed
- 20081858
- Pubmed
- 18556336
Drugs