NM_004519.4(KCNQ3):c.2330G>A (p.Arg777Gln) AND Seizures, benign familial neonatal, 2
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000388137.13
Allele description [Variation Report for NM_004519.4(KCNQ3):c.2330G>A (p.Arg777Gln)]
NM_004519.4(KCNQ3):c.2330G>A (p.Arg777Gln)
Condition(s)
- Name:
- Seizures, benign familial neonatal, 2
- Synonyms:
- CONVULSIONS, BENIGN FAMILIAL NEONATAL, 2; KCNQ3-related disorders; Seizures, benign neonatal, 2; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007366; MedGen: C1852581; Orphanet: 1949; OMIM: 121201
Assertion and evidence details
Last Updated: Apr 20, 2024