Variant (rsID / SNP)

rs111475461

rs111475461 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPG7. Location: chromosome 16, position 89,613,073. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

SPG7Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 16:89613073
Cytoband: 16q24.3
HGVS: NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln)
Allele change: Missense_R486Q

Associated conditions / phenotypes

Hereditary spastic paraplegia 7|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.