NM_003477.3(PDHX):c.-23C>A AND Pyruvate dehydrogenase E3-binding protein deficiency
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000293664.5
Allele description [Variation Report for NM_003477.3(PDHX):c.-23C>A]
NM_003477.3(PDHX):c.-23C>A
Condition(s)
- Name:
- Pyruvate dehydrogenase E3-binding protein deficiency (PDHXD)
- Synonyms:
- LACTIC ACIDEMIA DUE TO DEFECT IN LIPOYL-CONTAINING COMPONENT X OF THE PYRUVATE DEHYDROGENASE COMPLEX; PYRUVATE HYDROGENASE E3-BINDING PROTEIN DEFICIENCY; E3-Binding Protein (Component X) Deficiency
- Identifiers:
- MONDO: MONDO:0009503; MedGen: C1855553; OMIM: 245349
-
uncharacterized protein THITE_2050221 [Thermothielavioides terrestris NRRL 8126]
uncharacterized protein THITE_2050221 [Thermothielavioides terrestris NRRL 8126]gi|367048667|ref|XP_003654713.1|Protein
-
DC303873 BRACE2 Homo sapiens cDNA clone BRACE2020293 5', mRNA sequence
DC303873 BRACE2 Homo sapiens cDNA clone BRACE2020293 5', mRNA sequencegi|145983715|gnl|dbEST|46476848|dbj 3873.1|Nucleotide
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Last Updated: Dec 24, 2023