NM_000748.3(CHRNB2):c.329A>C (p.Lys110Thr) AND Autosomal dominant nocturnal frontal lobe epilepsy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 4, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001213692.5
Allele description [Variation Report for NM_000748.3(CHRNB2):c.329A>C (p.Lys110Thr)]
NM_000748.3(CHRNB2):c.329A>C (p.Lys110Thr)
Condition(s)
- Name:
- Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)
- Identifiers:
- MONDO: MONDO:0020300; MedGen: C3696898
Assertion and evidence details
Last Updated: May 12, 2024