NM_000108.5(DLD):c.105C>A (p.Tyr35Ter) AND Pyruvate dehydrogenase E3 deficiency
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 4, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003625005.2
Allele description [Variation Report for NM_000108.5(DLD):c.105C>A (p.Tyr35Ter)]
NM_000108.5(DLD):c.105C>A (p.Tyr35Ter)
Condition(s)
- Name:
- Pyruvate dehydrogenase E3 deficiency (DLDD)
- Synonyms:
- MAPLE SYRUP URINE DISEASE, TYPE III; DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; Maple syrup urine disease, type 3; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009529; MedGen: C5574660; Orphanet: 2394; Orphanet: 765; OMIM: 246900
Assertion and evidence details
Last Updated: Sep 29, 2024