Variant (rsID / SNP)

rs121918358

rs121918358 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPG7. Location: chromosome 16, position 89,576,947. Clinical significance in the table: Pathogenic.

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Reference-table entries

SPG7Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:89576947
Cytoband: 16q24.3
HGVS: NM_003119.4(SPG7):c.233T>A (p.Leu78Ter)
Allele change: Nonsense_L78X

Associated conditions / phenotypes

Hereditary spastic paraplegia 7|Proximal spinal muscular atrophy|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.