NM_001161352.2(KCNMA1):c.2649T>C (p.Ile883=) AND Generalized epilepsy-paroxysmal dyskinesia syndrome
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 24, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003510349.1
Allele description [Variation Report for NM_001161352.2(KCNMA1):c.2649T>C (p.Ile883=)]
NM_001161352.2(KCNMA1):c.2649T>C (p.Ile883=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024