Variant (rsID / SNP)

rs11839380

rs11839380 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SACS. Location: chromosome 13, position 23,909,142. Clinical significance in the table: Benign.

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Reference-table entries

SACSBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 13:23909142
Cytoband: 13q12.12
HGVS: NM_014363.6(SACS):c.8873A>G (p.Lys2958Arg)
Allele change: Missense_K2958R

Associated conditions / phenotypes

Spastic paraplegia|Charlevoix-Saguenay spastic ataxia|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.