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Variant (rsID / SNP)

rs878854991

SPAST

rs878854991 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPAST. Location: chromosome 2, position 32,366,975. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SPASTConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:32366975
Cytoband
2p22.3
HGVS
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)
Allele change
Missense_R467H

Associated conditions / phenotypes

Hereditary spastic paraplegia 4|Inborn genetic diseases|Abnormal central motor function|Hereditary spastic paraplegia

Public references

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