NM_014363.6(SACS):c.10473T>C (p.Asp3491=) AND Spastic paraplegia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001470851.9
Allele description [Variation Report for NM_014363.6(SACS):c.10473T>C (p.Asp3491=)]
NM_014363.6(SACS):c.10473T>C (p.Asp3491=)
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
-
Homo sapiens glutamyl-tRNA synthetase 2, mitochondrial (putative), mRNA (cDNA cl...
Homo sapiens glutamyl-tRNA synthetase 2, mitochondrial (putative), mRNA (cDNA clone MGC:48905 IMAGE:5728326), complete cdsgi|25058988|gb|BC040013.1|Nucleotide
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Last Updated: Sep 29, 2024