Variant (rsID / SNP)

rs2031640

rs2031640 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SACS. Location: chromosome 13, position 23,930,055. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

SACSBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 13:23930055
Cytoband: 13q12.12
HGVS: NM_014363.6(SACS):c.696T>A (p.Asn232Lys)
Allele change: Missense_N232K

Associated conditions / phenotypes

Charlevoix-Saguenay spastic ataxia|Spastic paraplegia|Hereditary 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.