NM_000748.3(CHRNB2):c.859G>A (p.Val287Met) AND Autosomal dominant nocturnal frontal lobe epilepsy 1
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 30, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003493411.1
Allele description [Variation Report for NM_000748.3(CHRNB2):c.859G>A (p.Val287Met)]
NM_000748.3(CHRNB2):c.859G>A (p.Val287Met)
Condition(s)
Assertion and evidence details
Last Updated: Oct 20, 2024