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
not provided
Source Database
ClinVar
Description
NM_000305.3(PON2):c.443C>G (p.Ala148Gly) AND not provided
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
2021-06-09
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001723549
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs