NC_000023.10:g.(?_18660114)_(19377781_?)del AND Pyruvate dehydrogenase E1-alpha deficiency
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 11, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001033913.1
Allele description
NC_000023.10:g.(?_18660114)_(19377781_?)del
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
-
IND family subclass B1 metallo-beta-lactamase [Chryseobacterium indologenes]
IND family subclass B1 metallo-beta-lactamase [Chryseobacterium indologenes]gi|1210993713|gb|ASE61294.1||gnl|PR 1221|CEQ15_07190Protein
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See more...Assertion and evidence details
Last Updated: Apr 23, 2022