Variant (rsID / SNP)

rs1060502227

rs1060502227 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPAST. Location: chromosome 2, position 32,361,662. Clinical significance in the table: Pathogenic.

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Reference-table entries

SPASTPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:32361662
Cytoband: 2p22.3
HGVS: NM_014946.4(SPAST):c.1276C>G (p.Leu426Val)
Allele change: Missense_L394V

Associated conditions / phenotypes

Hereditary spastic paraplegia 4

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.