Variant (rsID / SNP)

rs199920965

rs199920965 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPG11. Location: chromosome 15, position 44,867,137. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SPG11Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 15:44867137
Cytoband: 15q21.1
HGVS: NM_025137.4(SPG11):c.5969A>G (p.Tyr1990Cys)
Allele change: Silent

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.