Variant (rsID / SNP)

rs149797758

rs149797758 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPG7. Location: chromosome 16, position 89,590,561. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

SPG7Likely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 16:89590561
Cytoband: 16q24.3
HGVS: NM_003119.4(SPG7):c.524T>C (p.Leu175Pro)
Allele change: Missense_L175P

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.