Variant (rsID / SNP)

rs869312145

rs869312145 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLA. Clinical significance in the table: Pathogenic; drug response.

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Reference-table entries

GLAPathogenic

Clinical significance (as recorded): Pathogenic; drug response
Variant type: single nucleotide variant
Cytoband: Xq22.1
HGVS: NM_000169.3(GLA):c.540G>T (p.Leu180Phe)
Allele change: Silent

Associated conditions / phenotypes

Fabry disease|Migalastat response

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.