NM_014363.6(SACS):c.7655dup (p.Asn2552fs) AND Spastic paraplegia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 27, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001213960.8
Allele description [Variation Report for NM_014363.6(SACS):c.7655dup (p.Asn2552fs)]
NM_014363.6(SACS):c.7655dup (p.Asn2552fs)
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
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long-chain-fatty-acid--CoA ligase ACSBG2 [Camelus ferus]
long-chain-fatty-acid--CoA ligase ACSBG2 [Camelus ferus]gi|1811029393|ref|XP_032322225.1|Protein
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Olea europaea cultivar:Leccino, Donna Francesca, Oliva Rossa, Cellina
Olea europaea cultivar:Leccino, Donna Francesca, Oliva Rossa, CellinaComparative transcriptome analysis of four olive cultivars in response to infection by Xylella fastidiosaBioProject
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Colony-Stimulating Factors
Colony-Stimulating FactorsGlycoproteins found in a subfraction of normal mammalian plasma and urine. They stimulate the proliferation of bone marrow cells in agar cultures and the formation of colonies...<br/>Year introduced: 1979(1976)MeSH
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Last Updated: Sep 29, 2024