NM_014363.6(SACS):c.13621T>A (p.Leu4541Met) AND Spastic paraplegia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 29, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002543324.3
Allele description [Variation Report for NM_014363.6(SACS):c.13621T>A (p.Leu4541Met)]
NM_014363.6(SACS):c.13621T>A (p.Leu4541Met)
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
-
probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2 i...
probable bifunctional methylenetetrahydrofolate dehydrogenase/cyclohydrolase 2 isoform X3 [Canis lupus familiaris]gi|1953291325|ref|XP_038541816.1|Protein
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Last Updated: Sep 29, 2024