NM_001931.5(DLAT):c.436G>A (p.Ala146Thr) AND Pyruvate dehydrogenase E2 deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 8, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001931286.2
Allele description
NM_001931.5(DLAT):c.436G>A (p.Ala146Thr)
Condition(s)
- Name:
- Pyruvate dehydrogenase E2 deficiency (PDHDD)
- Synonyms:
- LACTIC ACIDEMIA DUE TO DEFECT OF E2 LIPOYL TRANSACETYLASE OF THE PYRUVATE DEHYDROGENASE COMPLEX; Dihydrolipoamide Acetyltransferase (E2) Deficiency
- Identifiers:
- MONDO: MONDO:0009502; MedGen: C1855565; Orphanet: 765; Orphanet: 79244; OMIM: 245348
-
eggc.vipFQQ (0)
BioProject
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Last Updated: Dec 24, 2023