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Variant (rsID / SNP)

rs111920492

SACS

rs111920492 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SACS. Location: chromosome 13, position 23,910,487. 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
13:23910487
Cytoband
13q12.12
HGVS
NM_014363.6(SACS):c.7528G>A (p.Ala2510Thr)
Allele change
Missense_A2510T

Associated conditions / phenotypes

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

Public references

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