NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn) AND Pyruvate dehydrogenase E1-alpha deficiency
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 18, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000907000.9
Allele description [Variation Report for NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn)]
NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn)
Condition(s)
- Name:
- Pyruvate dehydrogenase E1-alpha deficiency (PDHAD)
- Synonyms:
- X-linked Leigh syndrome; ATAXIA, INTERMITTENT, WITH PYRUVATE DEHYDROGENASE DEFICIENCY; ATAXIA WITH LACTIC ACIDOSIS I; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010717; MedGen: C1839413; OMIM: 312170
Assertion and evidence details
Last Updated: Jun 17, 2024