Variant (rsID / SNP)

rs281865117

rs281865117 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SACS. Location: chromosome 13, position 23,909,171. Clinical significance in the table: Pathogenic.

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Reference-table entries

SACSPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Chromosome / position: 13:23909171
Cytoband: 13q12.12
HGVS: NM_014363.6(SACS):c.8844del (p.Ile2949fs)

Associated conditions / phenotypes

Charlevoix-Saguenay spastic ataxia|Spastic paraplegia|Hereditary 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.