NM_014363.6(SACS):c.7648del (p.Leu2550fs) AND Spastic paraplegia
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003751802.2
Allele description [Variation Report for NM_014363.6(SACS):c.7648del (p.Leu2550fs)]
NM_014363.6(SACS):c.7648del (p.Leu2550fs)
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
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tyrosinase, partial [Nanorana sp. C SH-2019]
tyrosinase, partial [Nanorana sp. C SH-2019]gi|1799735830|gb|QHN70644.1|Protein
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cytochrome oxidase subunit I, partial (mitochondrion) [Nanorana sp. C SH-2019]
cytochrome oxidase subunit I, partial (mitochondrion) [Nanorana sp. C SH-2019]gi|1799734668|gb|QHN70338.1|Protein
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receptor-type tyrosine-protein phosphatase S isoform X17 [Homo sapiens]
receptor-type tyrosine-protein phosphatase S isoform X17 [Homo sapiens]gi|2462566643|ref|XP_054177598.1|Protein
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Oryza rufipogon isolate Y476 chromosome 7
Oryza rufipogon isolate Y476 chromosome 7gi|2731949444|gb|CP154936.1|Nucleotide
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Pooideae trnQ-rps16 intergenic spacer region, partial sequence; chloroplast.
Pooideae trnQ-rps16 intergenic spacer region, partial sequence; chloroplast.PopSet: 919018969PopSet
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024