NM_005592.4(MUSK):c.549A>G (p.Glu183=) AND Congenital myasthenic syndrome 9
- 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:
- RCV001168570.11
Allele description [Variation Report for NM_005592.4(MUSK):c.549A>G (p.Glu183=)]
NM_005592.4(MUSK):c.549A>G (p.Glu183=)
Condition(s)
Assertion and evidence details
Last Updated: Apr 20, 2024