NM_004984.4(KIF5A):c.2119C>T (p.Arg707Trp) AND Spastic paraplegia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001856206.5
Allele description [Variation Report for NM_004984.4(KIF5A):c.2119C>T (p.Arg707Trp)]
NM_004984.4(KIF5A):c.2119C>T (p.Arg707Trp)
Condition(s)
- Name:
- Spastic paraplegia
- Identifiers:
- MedGen: C0037772; Human Phenotype Ontology: HP:0001258
-
Homo sapiens isolate:CHM13
Homo sapiens isolate:CHM13Homo sapiens isolate:CHM13 RefSeq Genome sequencing and assemblyBioProject
-
BioProject Links for Protein (Select 2462538996) (1)
BioProject
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024