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Variant (rsID / SNP)

rs139670073

SACS

rs139670073 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SACS. Location: chromosome 13, position 23,909,025. 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
13:23909025
Cytoband
13q12.12
HGVS
NM_014363.6(SACS):c.8990G>A (p.Arg2997Gln)
Allele change
Missense_R2997Q

Associated conditions / phenotypes

Charlevoix-Saguenay spastic ataxia|Spastic paraplegia

Public references

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