OXCT1
HGNC:8527 · SaudiVarKB evidence summary derived from retained literature mentions.
2Gene mentions
2Publications
1Linked variants
1Associated phenotypes
Associated phenotypes
Co-mentioned in OXCT1 publications| Phenotype | Identifier | Articles | Mentions |
|---|---|---|---|
| inborn error of metabolism | HP:0001939 | 1 | 1 |
Linked variants
Variants normalized to OXCT1| Variant | HGVS / rsID | Articles | Mentions |
|---|---|---|---|
| p.R468C | p.R468C | 1 | 1 |
Population context
Reported in the same publications| Country / region | Group | Cohort | Articles |
|---|---|---|---|
| Not specified | — | 17 | 1 |
| Not specified | — | 10 | 1 |
Supporting publications
2 records- 2021Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease.Biochimie1 mentions
- 2021Clinical variability and outcome of succinyl-CoA:3-ketoacid CoA transferase deficiency caused by a single OXCT1 mutation: Report of 17 cases.JIMD reports1 mentions