Variant (rsID / SNP)

rs80338869

rs80338869 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPG11. Location: chromosome 15, position 44,856,873. The table records no clinical significance for this variant.

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Reference-table entries

SPG11Not classified

Variant type: single nucleotide variant
Chromosome / position: 15:44856873
Cytoband: 15q21.1
HGVS: NM_025137.4(SPG11):c.7023C>A (p.Tyr2341Ter)
Allele change: Synonymous_Y2228Y

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.