NM_213599.3(ANO5):c.191dup (p.Asn64fs) AND Myopathy
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 2, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000414931.5
Allele description [Variation Report for NM_213599.3(ANO5):c.191dup (p.Asn64fs)]
NM_213599.3(ANO5):c.191dup (p.Asn64fs)
Condition(s)
- Name:
- Myopathy
- Synonyms:
- Muscle disorders
- Identifiers:
- MONDO: MONDO:0005336; MeSH: D009135; MedGen: C0026848; Human Phenotype Ontology: HP:0003198
Assertion and evidence details
Last Updated: Jun 2, 2024