Annotation Detail
Information
- Associated Genes
- PON2
- Associated Variants
-
PON2 p.Ala148Gly (p.A148G)
(
ENST00000222572.8,
ENST00000433091.6,
ENST00000633192.1,
ENST00000633531.1 )
PON2 p.Ala148Gly (p.A148G) ( ENST00000222572.8, ENST00000433091.6, ENST00000633192.1, ENST00000633531.1 ) - Associated Disease
- PARAOXONASE 2 POLYMORPHISM
- Source Database
- ClinVar
- Description
- NM_000305.3(PON2):c.443C>G (p.Ala148Gly) AND PARAOXONASE 2 POLYMORPHISM
- ClinVar Allele ID
- 22124
- ClinVar RefSeq Alternation Syntax
- NM_001018161.2:c.407C>G
- ClinVar RefSeq Alternation Syntax
- NM_000305.3:c.443C>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 1997-10-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000007501
- ClinVar Disease
- PARAOXONASE 2 POLYMORPHISM
- Observed Origin Sample
- germline
- Pubmed
- 9329371
Drugs