NM_004820.5(CYP7B1):c.538C>G (p.Leu180Val) AND Spastic paraplegia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 12, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000532801.7
Allele description [Variation Report for NM_004820.5(CYP7B1):c.538C>G (p.Leu180Val)]
NM_004820.5(CYP7B1):c.538C>G (p.Leu180Val)
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
Assertion and evidence details
Last Updated: Feb 20, 2024