Variant (rsID / SNP)

rs369227537

rs369227537 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPG7. Location: chromosome 16, position 89,616,910. 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: 16:89616910
Cytoband: 16q24.3
HGVS: NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter)
Allele change: Nonsense_K558X

Associated conditions / phenotypes

Hereditary spastic paraplegia 7|Mitochondrial disease|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.