Annotation Detail
Information
- Associated Genes
- SOD1
- Associated Variants
-
SOD1 p.Gly94Arg (p.G94R)
(
ENST00000270142.11,
ENST00000389995.4 )
SOD1 p.Gly94Arg (p.G94R) ( ENST00000270142.11, ENST00000389995.4 ) - Associated Disease
- motor neuron disease
- Source Database
- ClinVar
- Description
- NM_000454.5(SOD1):c.280G>C (p.Gly94Arg) AND Motor neuron disease
- ClinVar Allele ID
- 29823
- ClinVar RefSeq Alternation Syntax
- NM_000454.5:c.280G>C
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2016-08-31
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000492720
- ClinVar Disease
- Motor neuron disease
- Observed Origin Sample
- unknown
Drugs