NM_000108.5(DLD):c.879T>C (p.Ile293=) AND Pyruvate dehydrogenase E3 deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 21, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001948076.5
Allele description [Variation Report for NM_000108.5(DLD):c.879T>C (p.Ile293=)]
NM_000108.5(DLD):c.879T>C (p.Ile293=)
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
-
gtaB [Bacillus subtilis subsp. subtilis str. 168]
gtaB [Bacillus subtilis subsp. subtilis str. 168]Gene ID:936797Gene
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Last Updated: Feb 20, 2024