Variant (rsID / SNP)

rs1057516429

rs1057516429 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLA. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

GLALikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Cytoband: Xq22.1
HGVS: NM_000169.3(GLA):c.244A>T (p.Lys82Ter)
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.