NM_000079.4(CHRNA1):c.319C>T (p.Arg107Cys) AND Congenital myasthenic syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000380558.5
Allele description [Variation Report for NM_000079.4(CHRNA1):c.319C>T (p.Arg107Cys)]
NM_000079.4(CHRNA1):c.319C>T (p.Arg107Cys)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024