Gene entry
SPAST
spastin
- Chromosome
- 2
- Cytoband
- 2p22.3
- Variants (rsID)
- 18
SPAST is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2p22.3). Its official name is “spastin”. The reference table lists 18 variants (rsID) for this gene.
Clinically classified variants
8 reference-table entries with clinical significance.
- rs72796870Benignsingle nucleotide variantHereditary spastic paraplegia 4
- rs142053576Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 4|Cerebral palsy
- rs753913367Conflicting interpretationssingle nucleotide variantSpastic paraplegia, autosomal dominant
- rs864622179Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 4|Hereditary spastic paraplegia
- rs878854991Conflicting interpretationssingle nucleotide variantHereditary spastic paraplegia 4|Inborn genetic diseases|Abnormal central motor function|Hereditary spastic paraplegia
- rs1060502227Pathogenicsingle nucleotide variantHereditary spastic paraplegia 4
- rs121908511Pathogenicsingle nucleotide variantHereditary spastic paraplegia 4|Spastic paraparesis|Hereditary spastic paraplegia
- rs864622162Pathogenicsingle nucleotide variantHereditary spastic paraplegia 4|Hereditary spastic paraplegia
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.