NM_014363.6(SACS):c.600A>G (p.Ile200Met) AND Spastic paraplegia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 16, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001863716.3
Allele description [Variation Report for NM_014363.6(SACS):c.600A>G (p.Ile200Met)]
NM_014363.6(SACS):c.600A>G (p.Ile200Met)
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
Assertion and evidence details
Last Updated: Feb 28, 2024