Variant (rsID / SNP)

rs782449839

rs782449839 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLA. Clinical significance in the table: Uncertain significance.

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Reference-table entries

GLAUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Cytoband: Xq22.1
HGVS: NM_000169.3(GLA):c.1196G>C (p.Trp399Ser)
Allele change: Silent

Associated conditions / phenotypes

Migalastat response|Fabry disease|Hypertrophic cardiomyopathy 1|Stroke

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.