NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro) AND Maple syrup urine disease type 1A
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 27, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004566721.1
Allele description [Variation Report for NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)]
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)
Condition(s)
Assertion and evidence details
Last Updated: Oct 8, 2024