NM_000108.5(DLD):c.*1877A>G AND Pyruvate dehydrogenase complex deficiency
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000391649.5
Allele description [Variation Report for NM_000108.5(DLD):c.*1877A>G]
NM_000108.5(DLD):c.*1877A>G
Condition(s)
- Name:
- Pyruvate dehydrogenase complex deficiency (PDHC)
- Synonyms:
- PDH DEFICIENCY; Pyruvate Dehydrogenase Complex Deficiency Disease; Pyruvate decarboxylase deficiency; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0019169; MedGen: C0034345; Orphanet: 765; Orphanet: 79243; OMIM: PS312170
-
hypothetical protein PBI_GADOST_83 [Mycobacterium phage Gadost]
hypothetical protein PBI_GADOST_83 [Mycobacterium phage Gadost]gi|735999573|gb|AJA43296.1|Protein
-
regucalcin isoform 1 [Homo sapiens]
regucalcin isoform 1 [Homo sapiens]gi|23111021|ref|NP_690608.1|Protein
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Last Updated: May 19, 2024