NM_000083.3(CLCN1):c.870C>G (p.Ile290Met) AND Myotonia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000626584.2
Allele description [Variation Report for NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)]
NM_000083.3(CLCN1):c.870C>G (p.Ile290Met)
Condition(s)
- Name:
- Myotonia
- Identifiers:
- MedGen: C0700153; Human Phenotype Ontology: HP:0002486
Assertion and evidence details
Last Updated: Sep 16, 2024