NM_005327.7(HADH):c.479C>T (p.Thr160Ile) AND Deficiency of 3-hydroxyacyl-CoA dehydrogenase
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Nov 18, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001071323.4
Allele description [Variation Report for NM_005327.7(HADH):c.479C>T (p.Thr160Ile)]
NM_005327.7(HADH):c.479C>T (p.Thr160Ile)
Condition(s)
- Name:
- Deficiency of 3-hydroxyacyl-CoA dehydrogenase (M/SCHAD)
- Synonyms:
- 3-alpha hydroxyacyl-CoA dehydrogenase deficiency; 3-hydroxylacyl-CoA dehydrogenase deficiency; Medium and short chain 3-hydroxyacyl-CoA dehydrogenase deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0017715; MedGen: C1291230; Orphanet: 71212; OMIM: 231530
Assertion and evidence details
Last Updated: Feb 28, 2024