NM_000744.7(CHRNA4):c.806C>G (p.Ser269Cys) AND Autosomal dominant nocturnal frontal lobe epilepsy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 8, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001897314.4
Allele description [Variation Report for NM_000744.7(CHRNA4):c.806C>G (p.Ser269Cys)]
NM_000744.7(CHRNA4):c.806C>G (p.Ser269Cys)
Condition(s)
- Name:
- Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)
- Identifiers:
- MONDO: MONDO:0020300; MedGen: C3696898
-
kdsA [Rickettsia conorii str. Malish 7]
kdsA [Rickettsia conorii str. Malish 7]Gene ID:928110Gene
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Last Updated: Sep 29, 2024