NM_000709.4(BCKDHA):c.159G>C (p.Gln53His) AND Maple syrup urine disease
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Jan 17, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000363085.16
Allele description [Variation Report for NM_000709.4(BCKDHA):c.159G>C (p.Gln53His)]
NM_000709.4(BCKDHA):c.159G>C (p.Gln53His)
Condition(s)
Assertion and evidence details
Last Updated: Apr 6, 2024