Annotation Detail

Information
Associated Genes
PON2
Associated Variants
PON2 p.Ser311Cys (p.S311C) ( ENST00000222572.8, ENST00000433091.6, ENST00000633192.1, ENST00000633531.1 )
PON2 p.Ser311Cys (p.S311C) ( ENST00000222572.8, ENST00000433091.6, ENST00000633192.1, ENST00000633531.1 )
Associated Disease
PARAOXONASE 2 POLYMORPHISM
Source Database
ClinVar
Description
NM_000305.3(PON2):c.932C>G (p.Ser311Cys) AND PARAOXONASE 2 POLYMORPHISM
ClinVar Allele ID
22123
ClinVar RefSeq Alternation Syntax
NM_000305.3:c.932C>G
ClinVar RefSeq Alternation Syntax
NM_001018161.2:c.896C>G
Clinical Significance Description
Benign
Clinical Significance Last Update
1998-01-01
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000007500
ClinVar Disease
PARAOXONASE 2 POLYMORPHISM
Observed Origin Sample
germline
Pubmed
9443862
Drugs