NM_000108.5(DLD):c.105C>T (p.Tyr35=) AND Pyruvate dehydrogenase E3 deficiency
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 16, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000937022.9
Allele description [Variation Report for NM_000108.5(DLD):c.105C>T (p.Tyr35=)]
NM_000108.5(DLD):c.105C>T (p.Tyr35=)
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
-
LINC00556 (0)
SRA
-
alpha-2A adrenergic receptor isoform X2 [Lutra lutra]
alpha-2A adrenergic receptor isoform X2 [Lutra lutra]gi|2223384257|ref|XP_047559259.1|Protein
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024