Variant (rsID / SNP)

rs78239814

rs78239814 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SACS. Location: chromosome 13, position 23,910,631. 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: 13:23910631
Cytoband: 13q12.12
HGVS: NM_014363.6(SACS):c.7384C>T (p.Pro2462Ser)
Allele change: Missense_P2462S

Associated conditions / phenotypes

Spastic paraplegia|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.