NM_025137.4(SPG11):c.5592_5593del (p.Glu1864fs) AND Hereditary spastic paraplegia 11
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 14, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003496084.1
Allele description [Variation Report for NM_025137.4(SPG11):c.5592_5593del (p.Glu1864fs)]
NM_025137.4(SPG11):c.5592_5593del (p.Glu1864fs)
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
-
Homo sapiens troponin T3, fast skeletal type (TNNT3), transcript variant 1, mRNA
Homo sapiens troponin T3, fast skeletal type (TNNT3), transcript variant 1, mRNAgi|1519315975|ref|NM_006757.4|Nucleotide
-
9130002K18Rik RIKEN cDNA 9130002K18 gene [Mus musculus]
9130002K18Rik RIKEN cDNA 9130002K18 gene [Mus musculus]Gene ID:74554Gene
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024