Variant (rsID / SNP)

rs72796870

rs72796870 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPAST. Location: chromosome 2, position 32,382,578. Clinical significance in the table: Benign.

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Reference-table entries

SPASTBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:32382578
Cytoband: 2p22.3
HGVS: NM_014946.4(SPAST):c.*3013T>C
Allele change: Silent

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.