Gene entry
ECHS1
enoyl-CoA hydratase, short chain 1
- Chromosome
- 10
- Cytoband
- 10q26.3
- Variants (rsID)
- 4
ECHS1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 10 (region 10q26.3). Its official name is “enoyl-CoA hydratase, short chain 1”. The reference table lists 4 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs1049951Benignsingle nucleotide variantMitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
- rs587776498Pathogenicsingle nucleotide variantLeigh syndrome|Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.