NM_000334.4(SCN4A):c.673C>T (p.Arg225Trp) AND SCN4A-related non-dystrophic myotonia
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Apr 6, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002267640.4
Allele description [Variation Report for NM_000334.4(SCN4A):c.673C>T (p.Arg225Trp)]
NM_000334.4(SCN4A):c.673C>T (p.Arg225Trp)
Condition(s)
- Name:
- SCN4A-related non-dystrophic myotonia
- Identifiers:
Assertion and evidence details
Last Updated: May 12, 2024