NM_004453.4(ETFDH):c.121C>T (p.Arg41Ter) AND Multiple acyl-CoA dehydrogenase deficiency
- Germline classification:
- Pathogenic (3 submissions)
- Last evaluated:
- Jan 29, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000699705.11
Allele description [Variation Report for NM_004453.4(ETFDH):c.121C>T (p.Arg41Ter)]
NM_004453.4(ETFDH):c.121C>T (p.Arg41Ter)
Condition(s)
- Name:
- Multiple acyl-CoA dehydrogenase deficiency (MADD)
- Synonyms:
- GA II; Ethylmalonic-adipicaciduria; Glutaric aciduria, type 2; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009282; MedGen: C0268596; Orphanet: 26791; OMIM: 231680
Assertion and evidence details
Last Updated: Feb 28, 2024