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Variant (rsID / SNP)

rs76872266

SACS

rs76872266 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SACS. Location: chromosome 13, position 23,914,263. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SACSConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
13:23914263
Cytoband
13q12.12
HGVS
NM_014363.6(SACS):c.3752T>C (p.Ile1251Thr)
Allele change
Missense_I1251T

Associated conditions / phenotypes

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

Public references

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