Variant (rsID / SNP)

rs121908511

rs121908511 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPAST. Location: chromosome 2, position 32,366,974. 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: 2:32366974
Cytoband: 2p22.3
HGVS: NM_014946.4(SPAST):c.1495C>T (p.Arg499Cys)
Allele change: Missense_R467C

Associated conditions / phenotypes

Hereditary spastic paraplegia 4|Spastic paraparesis|Hereditary spastic paraplegia

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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