Annotation Detail
Information
- Associated Genes
- PON1
- Associated Variants
-
PON1 p.Leu55Met (p.L55M)
(
ENST00000222381.8 )
PON1 p.Leu55Met (p.L55M) ( ENST00000222381.8 ) - Associated Disease
- Coronary artery disease, susceptibility to
- Source Database
- ClinVar
- Description
- NM_000446.7(PON1):c.163T>A (p.Leu55Met) AND Coronary artery disease, susceptibility to
- ClinVar Allele ID
- 28775
- ClinVar RefSeq Alternation Syntax
- NM_000446.7:c.163T>A
- Clinical Significance Description
- risk factor
- Clinical Significance Last Update
- 2002-03-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000014742
- ClinVar Disease
- Coronary artery disease, susceptibility to
- Observed Origin Sample
- germline
- Pubmed
- 9661650
- Pubmed
- 11335891
- Pubmed
- 9011577
- Pubmed
- 11918623
- Pubmed
- 11889198
- Pubmed
- 11788650
Drugs