NM_183050.4(BCKDHB):c.115G>A (p.Ala39Thr) AND Maple syrup urine disease
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jul 8, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000987745.2
Allele description [Variation Report for NM_183050.4(BCKDHB):c.115G>A (p.Ala39Thr)]
NM_183050.4(BCKDHB):c.115G>A (p.Ala39Thr)
Condition(s)
Assertion and evidence details
Last Updated: Apr 6, 2024