NM_004820.5(CYP7B1):c.1464G>A (p.Leu488=) AND Spastic paraplegia
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 26, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001087330.7
Allele description [Variation Report for NM_004820.5(CYP7B1):c.1464G>A (p.Leu488=)]
NM_004820.5(CYP7B1):c.1464G>A (p.Leu488=)
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
Assertion and evidence details
Last Updated: Feb 28, 2024