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Variant (rsID / SNP)

rs562890289

SPG7

rs562890289 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPG7. Location: chromosome 16, position 89,611,178. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

SPG7Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
16:89611178
Cytoband
16q24.3
HGVS
NM_003119.4(SPG7):c.1447C>T (p.Gln483Ter)
Allele change
Nonsense_Q483X

Associated conditions / phenotypes

Hereditary spastic paraplegia|Hereditary spastic paraplegia 7

Public references

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