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Variant (rsID / SNP)

rs139334167

SPG11

rs139334167 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPG11. Location: chromosome 15, position 44,856,827. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SPG11Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
15:44856827
Cytoband
15q21.1
HGVS
NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe)
Allele change
Missense_L2244F

Associated conditions / phenotypes

Hereditary spastic paraplegia 11|Hereditary spastic paraplegia

Public references

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