NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) AND Autosomal dominant nocturnal frontal lobe epilepsy 5
- Germline classification:
- Pathogenic (5 submissions)
- Last evaluated:
- Jun 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000032797.17
Allele description [Variation Report for NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys)]
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys)
Condition(s)
Assertion and evidence details
Last Updated: Oct 26, 2024