NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) AND Myotonia
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 23, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000415172.3
Allele description [Variation Report for NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)]
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)
Condition(s)
- Name:
- Myotonia
- Identifiers:
- MedGen: C0700153; Human Phenotype Ontology: HP:0002486
Assertion and evidence details
Last Updated: May 12, 2024