NM_183050.4(BCKDHB):c.141G>A (p.Gln47=) AND Maple syrup urine disease
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Sep 26, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003524833.1
Allele description [Variation Report for NM_183050.4(BCKDHB):c.141G>A (p.Gln47=)]
NM_183050.4(BCKDHB):c.141G>A (p.Gln47=)
Condition(s)
Assertion and evidence details
Last Updated: Apr 6, 2024