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Variant (rsID / SNP)

rs312262723

SPG11

rs312262723 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPG11. Location: chromosome 15, position 44,943,910. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SPG11Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
15:44943910
Cytoband
15q21.1
HGVS
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter)
Allele change
Nonsense_S412X

Associated conditions / phenotypes

Hereditary spastic paraplegia 11

Public references

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