Variant (rsID / SNP)

rs199804717

rs199804717 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SPG7. Location: chromosome 16, position 89,617,009. Clinical significance in the table: Uncertain significance.

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Reference-table entries

SPG7Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 16:89617009
Cytoband: 16q24.3
HGVS: NM_003119.4(SPG7):c.1771G>A (p.Val591Met)
Allele change: Missense_V591M

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.