NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys) AND Myoclonic absence seizure
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001003632.3
Allele description [Variation Report for NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys)]
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys)
Condition(s)
- Name:
- Myoclonic absence seizure
- Identifiers:
- MedGen: C4023512; Human Phenotype Ontology: HP:0011150
Assertion and evidence details
Last Updated: Jan 25, 2025