NM_000334.4(SCN4A):c.4539C>A (p.Ile1513=) AND Congenital myasthenic syndrome 16
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000377718.9
Allele description [Variation Report for NM_000334.4(SCN4A):c.4539C>A (p.Ile1513=)]
NM_000334.4(SCN4A):c.4539C>A (p.Ile1513=)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024