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Variant (rsID / SNP)

rs200453385

SACS

rs200453385 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SACS. Location: chromosome 13, position 23,908,464. 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
13:23908464
Cytoband
13q12.12
HGVS
NM_014363.6(SACS):c.9551G>A (p.Arg3184His)
Allele change
Missense_R3184H

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.