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Variant (rsID / SNP)

rs864622162

SPAST

rs864622162 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPAST. Location: chromosome 2, position 32,366,986. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SPASTPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
2:32366986
Cytoband
2p22.3
HGVS
NM_014946.4(SPAST):c.1507C>T (p.Arg503Trp)
Allele change
Missense_R471W

Associated conditions / phenotypes

Hereditary spastic paraplegia 4|Hereditary spastic paraplegia

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.