Variant (rsID / SNP)

rs753913367

rs753913367 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPAST. Location: chromosome 2, position 32,379,576. 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: 2:32379576
Cytoband: 2p22.3
HGVS: NM_014946.4(SPAST):c.*11T>C
Allele change: Silent

Associated conditions / phenotypes

Spastic paraplegia, autosomal dominant

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.