NM_004521.3(KIF5B):c.762CAA[1] (p.Asn255del) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002463581.1
Allele description [Variation Report for NM_004521.3(KIF5B):c.762CAA[1] (p.Asn255del)]
NM_004521.3(KIF5B):c.762CAA[1] (p.Asn255del)
Condition(s)
- Name:
- Primary dilated cardiomyopathy (DCM)
- Synonyms:
- Dilated Cardiomyopathy
- Identifiers:
- EFO: EFO_0000407; MONDO: MONDO:0005021; MeSH: D002311; MedGen: C0007193; Human Phenotype Ontology: HP:0001644
- Name:
- Ophthalmoplegia
- Identifiers:
- MONDO: MONDO:0003425; MedGen: C0029089; Human Phenotype Ontology: HP:0000602
- Name:
- Multiple joint contractures
- Identifiers:
- MedGen: C0158118; Human Phenotype Ontology: HP:0002828
- Name:
- Skeletal myopathy
- Synonyms:
- Skeletal muscle disease; Skeletal muscle disorder
- Identifiers:
- MONDO: MONDO:0020120; MedGen: C1533847; Orphanet: 98472; Human Phenotype Ontology: HP:0003756
Assertion and evidence details
Last Updated: Apr 6, 2024