NM_213595.4(ISCU):c.445G>A (p.Ala149Thr) AND Myopathy
- Germline classification:
- Uncertain significance (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001553539.1
Allele description [Variation Report for NM_213595.4(ISCU):c.445G>A (p.Ala149Thr)]
NM_213595.4(ISCU):c.445G>A (p.Ala149Thr)
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: Feb 28, 2024