NM_014363.6(SACS):c.9515A>G (p.Lys3172Arg) AND Spastic paraplegia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 15, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003854772.1
Allele description [Variation Report for NM_014363.6(SACS):c.9515A>G (p.Lys3172Arg)]
NM_014363.6(SACS):c.9515A>G (p.Lys3172Arg)
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
Assertion and evidence details
Last Updated: Mar 5, 2024