NM_000744.7(CHRNA4):c.1143C>T (p.Ala381=) AND Autosomal dominant nocturnal frontal lobe epilepsy
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 27, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000474696.17
Allele description [Variation Report for NM_000744.7(CHRNA4):c.1143C>T (p.Ala381=)]
NM_000744.7(CHRNA4):c.1143C>T (p.Ala381=)
Condition(s)
- Name:
- Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)
- Identifiers:
- MONDO: MONDO:0020300; MedGen: C3696898
Assertion and evidence details
Last Updated: Apr 15, 2024