Variant (rsID / SNP)

rs398123217

rs398123217 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLA. Clinical significance in the table: Pathogenic.

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Reference-table entries

GLAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq22.1
HGVS: NM_000169.3(GLA):c.647A>G (p.Tyr216Cys)
Allele change: Silent

Associated conditions / phenotypes

Fabry disease

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.