Variant (rsID / SNP)

rs3759871

rs3759871 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPG11. Location: chromosome 15, position 44,943,757. Clinical significance in the table: Benign.

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Reference-table entries

SPG11Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 15:44943757
Cytoband: 15q21.1
HGVS: NM_025137.4(SPG11):c.1388T>C (p.Phe463Ser)
Allele change: Missense_F463S

Associated conditions / phenotypes

Hereditary spastic paraplegia 11|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.