NM_025137.4(SPG11):c.1446T>C (p.Phe482=) AND Hereditary spastic paraplegia 11
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 6, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003601205.2
Allele description [Variation Report for NM_025137.4(SPG11):c.1446T>C (p.Phe482=)]
NM_025137.4(SPG11):c.1446T>C (p.Phe482=)
Condition(s)
- Name:
- Hereditary spastic paraplegia 11
- Synonyms:
- SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, COMPLICATED, WITH THIN CORPUS CALLOSUM; SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE, WITH MENTAL IMPAIRMENT AND THIN CORPUS CALLOSUM; Spastic paraplegia 11, autosomal recessive; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011445; MedGen: C1858479; Orphanet: 2822; OMIM: 604360
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Homo sapiens methylthioadenosine phosphorylase, mRNA (cDNA clone MGC:33067 IMAGE...
Homo sapiens methylthioadenosine phosphorylase, mRNA (cDNA clone MGC:33067 IMAGE:4820938), complete cdsgi|19913486|gb|BC026106.1|Nucleotide
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Mammarenavirus lassaense isolate Guinea Faranah segment S hypothetical protein (...
Mammarenavirus lassaense isolate Guinea Faranah segment S hypothetical protein (AVI28_00001) and pre-glycoprotein polyprotein GP complex (GPC) genes, complete cdsgi|1020216068|gb|KU978807.1|Nucleotide
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Last Updated: Sep 29, 2024