NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg) AND Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
- Germline classification:
- Pathogenic/Likely pathogenic (7 submissions)
- Last evaluated:
- Sep 30, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000578268.16
Allele description [Variation Report for NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg)]
NM_004092.4(ECHS1):c.476A>G (p.Gln159Arg)
Condition(s)
Assertion and evidence details
Last Updated: Oct 8, 2024