Annotation Detail
Information
- Associated Genes
- SOD3
- Associated Variants
-
SOD3 p.Arg231Gly (p.R231G)
(
ENST00000382120.4 )
SOD3 p.Arg231Gly (p.R231G) ( ENST00000382120.4 ) - Associated Disease
- Superoxide dismutase, elevated extracellular
- Source Database
- ClinVar
- Description
- NM_003102.4(SOD3):c.691C>G (p.Arg231Gly) AND Superoxide dismutase, elevated extracellular
- ClinVar Allele ID
- 27816
- ClinVar RefSeq Alternation Syntax
- NM_003102.4:c.691C>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2004-01-06
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000013615
- ClinVar Disease
- Superoxide dismutase, elevated extracellular
- Observed Origin Sample
- germline
- Pubmed
- 7662997
- Pubmed
- 8034674
- Pubmed
- 14662715
Drugs