NM_000744.7(CHRNA4):c.1057C>A (p.Pro353Thr) AND Autosomal dominant nocturnal frontal lobe epilepsy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 28, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000654299.6
Allele description [Variation Report for NM_000744.7(CHRNA4):c.1057C>A (p.Pro353Thr)]
NM_000744.7(CHRNA4):c.1057C>A (p.Pro353Thr)
Condition(s)
- Name:
- Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)
- Identifiers:
- MONDO: MONDO:0020300; MedGen: C3696898
-
NR2C1 nuclear receptor subfamily 2 group C member 1 [Homo sapiens]
NR2C1 nuclear receptor subfamily 2 group C member 1 [Homo sapiens]Gene ID:7181Gene
-
Gene Links for GEO Profiles (Select 79790611) (1)
Gene
-
Homologene neighbors for GEO Profiles (Select 79783922) (0)
GEO Profiles
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Last Updated: Feb 20, 2024