NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp) AND Maple syrup urine disease type 1A
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 15, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004566672.1
Allele description [Variation Report for NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp)]
NM_000709.4(BCKDHA):c.793C>T (p.Arg265Trp)
Condition(s)
Assertion and evidence details
Last Updated: Aug 25, 2024