NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) AND Abnormality of the musculature
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001813999.1
Allele description [Variation Report for NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)]
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)
Condition(s)
- Name:
- Abnormality of the musculature
- Identifiers:
- MedGen: C4021745; Human Phenotype Ontology: HP:0003011
Assertion and evidence details
Last Updated: Oct 20, 2024