NM_000080.4(CHRNE):c.1443A>C (p.Arg481=) AND Congenital myasthenic syndrome 4A
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 25, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002220835.6
Allele description [Variation Report for NM_000080.4(CHRNE):c.1443A>C (p.Arg481=)]
NM_000080.4(CHRNE):c.1443A>C (p.Arg481=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024