NM_000744.7(CHRNA4):c.956T>A (p.Leu319Gln) AND Autosomal dominant nocturnal frontal lobe epilepsy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 12, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003065819.2
Allele description [Variation Report for NM_000744.7(CHRNA4):c.956T>A (p.Leu319Gln)]
NM_000744.7(CHRNA4):c.956T>A (p.Leu319Gln)
Condition(s)
- Name:
- Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)
- Identifiers:
- MONDO: MONDO:0020300; MedGen: C3696898
-
homologue of retroviral POL genes [Cladosporium fulvum T-1 virus]
homologue of retroviral POL genes [Cladosporium fulvum T-1 virus]Gene ID:40526545Gene
-
dop-2 Dopamine receptor 2 [Caenorhabditis elegans]
dop-2 Dopamine receptor 2 [Caenorhabditis elegans]Gene ID:179347Gene
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Last Updated: Feb 20, 2024