NM_005881.4(BCKDK):c.466C>T (p.Arg156Ter) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 28, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002243680.2
Allele description [Variation Report for NM_005881.4(BCKDK):c.466C>T (p.Arg156Ter)]
NM_005881.4(BCKDK):c.466C>T (p.Arg156Ter)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
Assertion and evidence details
Last Updated: Mar 10, 2024