NM_000080.4(CHRNE):c.1019C>G (p.Pro340Arg) AND Congenital myasthenic syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 18, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001835246.1
Allele description [Variation Report for NM_000080.4(CHRNE):c.1019C>G (p.Pro340Arg)]
NM_000080.4(CHRNE):c.1019C>G (p.Pro340Arg)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024