NM_183050.4(BCKDHB):c.1175A>G (p.Tyr392Cys) AND Maple syrup urine disease
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003072747.2
Allele description [Variation Report for NM_183050.4(BCKDHB):c.1175A>G (p.Tyr392Cys)]
NM_183050.4(BCKDHB):c.1175A>G (p.Tyr392Cys)
Condition(s)
-
inactive C-alpha-formylglycine-generating enzyme 2 isoform e precursor [Homo sap...
inactive C-alpha-formylglycine-generating enzyme 2 isoform e precursor [Homo sapiens]gi|1489866162|ref|NP_001123541.2|Protein
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Last Updated: Sep 29, 2024