Annotation Detail
Information
- Associated Genes
- SOD3
- Associated Variants
-
SOD3 p.Ala58Thr (p.A58T)
(
ENST00000382120.4 )
SOD3 p.Ala58Thr (p.A58T) ( ENST00000382120.4 ) - Associated Disease
- SOD3-related disorder
- Source Database
- ClinVar
- Description
- NM_003102.4(SOD3):c.172G>A (p.Ala58Thr) AND SOD3-related disorder
- ClinVar Allele ID
- 3197250
- ClinVar RefSeq Alternation Syntax
- NM_003102.4:c.172G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-10-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003982346
- ClinVar Disease
- SOD3-related disorder
- Observed Origin Sample
- germline
Drugs