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Variant (rsID / SNP)

rs61755320

SPG7

rs61755320 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPG7. Location: chromosome 16, position 89,613,145. 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
16:89613145
Cytoband
16q24.3
HGVS
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
Allele change
Missense_A510V

Associated conditions / phenotypes

Hereditary spastic paraplegia 7|Spastic Paraplegia, Recessive|Hereditary spastic paraplegia|Inborn genetic diseases|Dysarthria|Spastic paraparesis|Cerebral cortical atrophy|Gait ataxia|Optic nerve hypoplasia|Intellectual disability|Spastic ataxia|Sensorimotor neuropathy

Public references

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