NM_000748.3(CHRNB2):c.1338+3G>T AND Autosomal dominant nocturnal frontal lobe epilepsy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 3, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000689334.5
Allele description [Variation Report for NM_000748.3(CHRNB2):c.1338+3G>T]
NM_000748.3(CHRNB2):c.1338+3G>T
Condition(s)
- Name:
- Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)
- Identifiers:
- MONDO: MONDO:0020300; MedGen: C3696898
Assertion and evidence details
Last Updated: May 7, 2024