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Variant (rsID / SNP)

rs141659620

SPG7

rs141659620 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPG7. Location: chromosome 16, position 89,598,369. 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
16:89598369
Cytoband
16q24.3
HGVS
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)
Allele change
Missense_G349S

Associated conditions / phenotypes

Hereditary spastic paraplegia 7|Cerebral palsy|Hereditary spastic paraplegia

Public references

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