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
- not provided
- Source Database
- ClinVar
- Description
- NM_000454.5(SOD1):c.13G>A (p.Ala5Thr) AND not provided
- ClinVar Allele ID
- 29804
- ClinVar RefSeq Alternation Syntax
- NM_000454.5:c.13G>A
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2017-03-09
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000518527
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs