NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg) AND Maple syrup urine disease
- Germline classification:
- Pathogenic/Likely pathogenic (3 submissions)
- Last evaluated:
- Apr 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001796129.7
Allele description [Variation Report for NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg)]
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg)
Condition(s)
Assertion and evidence details
Last Updated: Jun 23, 2024