Variant (rsID / SNP)

rs312262738

rs312262738 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPG11. Location: chromosome 15, position 44,918,609. Clinical significance in the table: Pathogenic.

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Reference-table entries

SPG11Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Duplication
Chromosome / position: 15:44918609
Cytoband: 15q21.1
HGVS: NM_025137.4(SPG11):c.2163dup (p.Ile722fs)

Associated conditions / phenotypes

Hereditary spastic paraplegia 11

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.