Annotation Detail
Information
- Associated Genes
- SOD1 SOD1-DT
- Associated Variants
-
SOD1 p.Ala5Val (p.A5V)
(
ENST00000270142.11,
ENST00000389995.4 )
SOD1 p.Ala5Val (p.A5V) ( ENST00000270142.11, ENST00000389995.4 ) - Associated Disease
- amyotrophic lateral sclerosis type 1
- Source Database
- ClinVar
- Description
- NM_000454.5(SOD1):c.14C>T (p.Ala5Val) AND Amyotrophic lateral sclerosis type 1
- ClinVar Allele ID
- 29802
- ClinVar RefSeq Alternation Syntax
- NM_000454.5:c.14C>T
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2024-01-29
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015885
- ClinVar Disease
- Amyotrophic lateral sclerosis type 1
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 8351519
- Pubmed
- 8560268
- Pubmed
- 17486090
- Pubmed
- 13804989
- Pubmed
- 7951249
- Pubmed
- 19176896
- Pubmed
- 14875225
Drugs