Annotation Detail
Information
- Associated Genes
- SOD1
- Associated Variants
-
SOD1 p.Ala146Thr (p.A146T)
(
ENST00000270142.11,
ENST00000389995.4 )
SOD1 p.Ala146Thr (p.A146T) ( ENST00000270142.11, ENST00000389995.4 ) - Associated Disease
- amyotrophic lateral sclerosis type 1
- Source Database
- ClinVar
- Description
- NM_000454.5(SOD1):c.436G>A (p.Ala146Thr) AND Amyotrophic lateral sclerosis type 1
- ClinVar Allele ID
- 29808
- ClinVar RefSeq Alternation Syntax
- NM_000454.5:c.436G>A
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2022-09-07
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015892
- ClinVar Disease
- Amyotrophic lateral sclerosis type 1
- Observed Origin Sample
- germline
- Pubmed
- 7496169
Drugs