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Variant (rsID / SNP)

rs147099630

SACS

rs147099630 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SACS. Location: chromosome 13, position 23,913,549. 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
13:23913549
Cytoband
13q12.12
HGVS
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)
Allele change
Missense_N1489S

Associated conditions / phenotypes

Abnormality of brain morphology|Spastic paraplegia|Charlevoix-Saguenay spastic ataxia|Hereditary spastic paraplegia

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.