NM_004519.4(KCNQ3):c.917C>T (p.Ala306Val) AND Benign neonatal seizures
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 12, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001852468.6
Allele description [Variation Report for NM_004519.4(KCNQ3):c.917C>T (p.Ala306Val)]
NM_004519.4(KCNQ3):c.917C>T (p.Ala306Val)
Condition(s)
- Name:
- Benign neonatal seizures
- Synonyms:
- Benign familial neonatal seizures; Convulsions benign familial neonatal dominant form; Autosomal dominant form of benign neonatal seizures; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0016027; MedGen: C0220669; Orphanet: 1949; OMIM: PS121200
Assertion and evidence details
Last Updated: Sep 29, 2024