NM_014363.6(SACS):c.10497C>A (p.Tyr3499Ter) AND Spastic paraplegia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001861363.6
Allele description [Variation Report for NM_014363.6(SACS):c.10497C>A (p.Tyr3499Ter)]
NM_014363.6(SACS):c.10497C>A (p.Tyr3499Ter)
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
-
ribosomal protein L20, partial (chloroplast) [Cronquistia pringlei]
ribosomal protein L20, partial (chloroplast) [Cronquistia pringlei]gi|219687071|dbj|BAH09090.1|Protein
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Last Updated: Oct 8, 2024