Variant (rsID / SNP)

rs281865118

rs281865118 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SACS. Location: chromosome 13, position 23,910,511. Clinical significance in the table: Pathogenic.

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Reference-table entries

SACSPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 13:23910511
Cytoband: 13q12.12
HGVS: NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter)
Allele change: Nonsense_R2502X

Associated conditions / phenotypes

Charlevoix-Saguenay spastic ataxia|Hereditary spastic paraplegia|Spastic paraplegia

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.