NM_004820.5(CYP7B1):c.170G>C (p.Gly57Ala) AND Hereditary spastic paraplegia 5A
- 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:
- RCV001391402.1
Allele description [Variation Report for NM_004820.5(CYP7B1):c.170G>C (p.Gly57Ala)]
NM_004820.5(CYP7B1):c.170G>C (p.Gly57Ala)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023