Variant (rsID / SNP)

rs143433500

rs143433500 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SACS. Location: chromosome 13, position 23,915,518. 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: 13:23915518
Cytoband: 13q12.12
HGVS: NM_014363.6(SACS):c.2497G>A (p.Glu833Lys)
Allele change: Missense_E833K

Associated conditions / phenotypes

Charlevoix-Saguenay spastic ataxia|Spastic paraplegia

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.