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Variant (rsID / SNP)

rs142053576

SPAST

rs142053576 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPAST. Location: chromosome 2, position 32,370,014. 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
2:32370014
Cytoband
2p22.3
HGVS
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly)
Allele change
Missense_D510G

Associated conditions / phenotypes

Hereditary spastic paraplegia 4|Cerebral palsy

Public references

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