NM_014363.6(SACS):c.13614C>A (p.Tyr4538Ter) AND Spastic paraplegia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 7, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001045016.5
Allele description [Variation Report for NM_014363.6(SACS):c.13614C>A (p.Tyr4538Ter)]
NM_014363.6(SACS):c.13614C>A (p.Tyr4538Ter)
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
Assertion and evidence details
Last Updated: Feb 28, 2024