Annotation Detail
Information
- Associated Genes
- PON1
- Associated Variants
-
PON1 p.Leu55Met (p.L55M)
(
ENST00000222381.8 )
PON1 p.Leu55Met (p.L55M) ( ENST00000222381.8 ) - Source Database
- ClinVar
- Description
- NM_000446.7(PON1):c.163T>A (p.Leu55Met) AND Enzyme activity finding
- ClinVar Allele ID
- 28775
- ClinVar RefSeq Alternation Syntax
- NM_000446.7:c.163T>A
- Clinical Significance Description
- association
- Clinical Significance Last Update
- 2015-05-18
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000133465
- Observed Origin Sample
- germline
- Pubmed
- 9661650
- Pubmed
- 11335891
- Pubmed
- 9011577
- Pubmed
- 11918623
- Pubmed
- 11889198
- Pubmed
- 11788650
Drugs