Annotation Detail
Information
- Associated Genes
- SOD1
- Associated Variants
-
SOD1 p.Asp91Ala (p.D91A)
(
ENST00000270142.11,
ENST00000389995.4 )
SOD1 p.Asp91Ala (p.D91A) ( ENST00000270142.11, ENST00000389995.4 ) - Associated Disease
- amyotrophic lateral sclerosis type 1
- Source Database
- ClinVar
- Description
- NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) AND Amyotrophic lateral sclerosis type 1
- ClinVar Allele ID
- 29805
- ClinVar RefSeq Alternation Syntax
- NM_000454.5:c.272A>C
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2024-03-06
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015888
- ClinVar Disease
- Amyotrophic lateral sclerosis type 1
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
- Pubmed
- 11369193
- Pubmed
- 10809943
- Pubmed
- 11220750
- Pubmed
- 10439968
- Pubmed
- 17420412
- Pubmed
- 8909456
- Pubmed
- 7647793
- Pubmed
- 9817920
Drugs