Variant (rsID / SNP)

rs140678034

rs140678034 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SACS. Location: chromosome 13, position 23,912,432. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SACSUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 13:23912432
Cytoband: 13q12.12
HGVS: NM_014363.6(SACS):c.5583G>C (p.Trp1861Cys)
Allele change: Missense_W1861C

Associated conditions / phenotypes

Charlevoix-Saguenay spastic ataxia

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.