Annotation Detail
Information
- Associated Genes
- SOD1
- Associated Variants
-
SOD1 p.His47Arg (p.H47R)
(
ENST00000270142.11,
ENST00000389995.4 )
SOD1 p.His47Arg (p.H47R) ( ENST00000270142.11, ENST00000389995.4 ) - Associated Disease
- amyotrophic lateral sclerosis type 1
- Source Database
- ClinVar
- Description
- NM_000454.5(SOD1):c.140A>G (p.His47Arg) AND Amyotrophic lateral sclerosis type 1
- ClinVar Allele ID
- 29803
- ClinVar RefSeq Alternation Syntax
- NM_000454.5:c.140A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-22
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015886
- ClinVar Disease
- Amyotrophic lateral sclerosis type 1
- Observed Origin Sample
- germline
- Observed Origin Sample
- de novo
- Pubmed
- 8298637
- Pubmed
- 10889018
- Pubmed
- 7836951
Drugs