NM_014363.6(SACS):c.9133A>G (p.Ile3045Val) AND Spastic paraplegia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- May 20, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002959104.3
Allele description [Variation Report for NM_014363.6(SACS):c.9133A>G (p.Ile3045Val)]
NM_014363.6(SACS):c.9133A>G (p.Ile3045Val)
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
-
S41 family peptidase [Hymenobacter canadensis]
S41 family peptidase [Hymenobacter canadensis]gi|2417461202|gnl|PRJNA912861|O3303 5|gb|WBA40649.1|Protein
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Last Updated: Sep 29, 2024