NM_000744.7(CHRNA4):c.1025C>T (p.Thr342Ile) AND Autosomal dominant nocturnal frontal lobe epilepsy
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 7, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003746691.1
Allele description [Variation Report for NM_000744.7(CHRNA4):c.1025C>T (p.Thr342Ile)]
NM_000744.7(CHRNA4):c.1025C>T (p.Thr342Ile)
Condition(s)
- Name:
- Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)
- Identifiers:
- MONDO: MONDO:0020300; MedGen: C3696898
-
txid1162377[Organism:noexp] (42)
Protein
Your browsing activity is empty.
Activity recording is turned off.
See more...Assertion and evidence details
Last Updated: Feb 28, 2024