Annotation Detail
Information
- Associated Genes
- SOD1 SOD1-DT
- Associated Variants
-
SOD1 p.Ala5Thr (p.A5T)
(
ENST00000389995.4,
ENST00000270142.11 )
SOD1 p.Ala5Thr (p.A5T) ( ENST00000270142.11, ENST00000389995.4 ) - Associated Disease
- amyotrophic lateral sclerosis type 1
- Source Database
- ClinVar
- Description
- NM_000454.5(SOD1):c.13G>A (p.Ala5Thr) AND Amyotrophic lateral sclerosis type 1
- ClinVar Allele ID
- 29804
- ClinVar RefSeq Alternation Syntax
- NM_000454.5:c.13G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-11-23
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015887
- ClinVar Disease
- Amyotrophic lateral sclerosis type 1
- Observed Origin Sample
- germline
- Pubmed
- 8179602
- Pubmed
- 7911198
Drugs