Annotation Detail
Information
- Associated Genes
- PON1
- Associated Variants
-
PON1 p.Gln192Arg (p.Q192R)
(
ENST00000222381.8 )
PON1 p.Gln192Arg (p.Q192R) ( ENST00000222381.8 ) - Associated Disease
- PON1-related disorder
- Source Database
- ClinVar
- Description
- NM_000446.7(PON1):c.575A>G (p.Gln192Arg) AND PON1-related disorder
- ClinVar Allele ID
- 28774
- ClinVar RefSeq Alternation Syntax
- NM_000446.7:c.575A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-10-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003982841
- ClinVar Disease
- PON1-related disorder
- Observed Origin Sample
- germline
Drugs