NM_001365951.3(KIF1B):c.4525C>T (p.Arg1509Cys) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 6, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000415414.2
Allele description [Variation Report for NM_001365951.3(KIF1B):c.4525C>T (p.Arg1509Cys)]
NM_001365951.3(KIF1B):c.4525C>T (p.Arg1509Cys)
Condition(s)
- Name:
- Vitiligo
- Identifiers:
- MONDO: MONDO:0008661; MedGen: C0042900; Orphanet: 247871; Human Phenotype Ontology: HP:0001045
- Name:
- Distal muscle weakness
- Identifiers:
- MedGen: C0427065; Human Phenotype Ontology: HP:0002460
- Name:
- EMG abnormality
- Identifiers:
- MedGen: C0476403; Human Phenotype Ontology: HP:0003457
- Name:
- EMG: axonal abnormality
- Identifiers:
- MedGen: C4025609; Human Phenotype Ontology: HP:0003482
Assertion and evidence details
Last Updated: Jul 23, 2024