Annotation Detail
Information
- Associated Genes
- SOD1
- Associated Variants
-
SOD1 p.Glu101Gly (p.E101G)
(
ENST00000270142.11,
ENST00000389995.4 )
SOD1 p.Glu101Gly (p.E101G) ( ENST00000270142.11, ENST00000389995.4 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000454.5(SOD1):c.302A>G (p.Glu101Gly) AND not provided
- ClinVar Allele ID
- 29800
- ClinVar RefSeq Alternation Syntax
- NM_000454.5:c.302A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2023-07-24
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001555083
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs