Annotation Detail
Information
- Associated Genes
- SOD1
- Associated Variants
-
SOD1 p.His81Arg (p.H81R)
(
ENST00000270142.11,
ENST00000389995.4 )
SOD1 p.His81Arg (p.H81R) ( ENST00000270142.11, ENST00000389995.4 ) - Associated Disease
- amyotrophic lateral sclerosis type 1
- Source Database
- ClinVar
- Description
- NM_000454.5(SOD1):c.242A>G (p.His81Arg) AND Amyotrophic lateral sclerosis type 1
- ClinVar Allele ID
- 29821
- ClinVar RefSeq Alternation Syntax
- NM_000454.5:c.242A>G
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2020-10-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015905
- ClinVar Disease
- Amyotrophic lateral sclerosis type 1
- Observed Origin Sample
- germline
- Pubmed
- 12402272
Drugs