NM_183050.4(BCKDHB):c.356T>G (p.Val119Gly) AND Maple syrup urine disease type 1B
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 23, 2004
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003534310.5
Allele description [Variation Report for NM_183050.4(BCKDHB):c.356T>G (p.Val119Gly)]
NM_183050.4(BCKDHB):c.356T>G (p.Val119Gly)
Condition(s)
Assertion and evidence details
Last Updated: Oct 26, 2024