NM_183050.4(BCKDHB):c.122C>T (p.Thr41Ile) AND Maple syrup urine disease
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 31, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000872414.10
Allele description [Variation Report for NM_183050.4(BCKDHB):c.122C>T (p.Thr41Ile)]
NM_183050.4(BCKDHB):c.122C>T (p.Thr41Ile)
Condition(s)
Assertion and evidence details
Last Updated: Apr 6, 2024