NM_000748.3(CHRNB2):c.1236C>T (p.Gly412=) AND Autosomal dominant nocturnal frontal lobe epilepsy
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001083355.7
Allele description [Variation Report for NM_000748.3(CHRNB2):c.1236C>T (p.Gly412=)]
NM_000748.3(CHRNB2):c.1236C>T (p.Gly412=)
Condition(s)
- Name:
- Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)
- Identifiers:
- MONDO: MONDO:0020300; MedGen: C3696898
Assertion and evidence details
Last Updated: Feb 20, 2024