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Variant (rsID / SNP)

rs200220848

SPG11

rs200220848 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPG11. Location: chromosome 15, position 44,865,940. 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
15:44865940
Cytoband
15q21.1
HGVS
NM_025137.4(SPG11):c.6010T>G (p.Leu2004Val)
Allele change
Silent

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.