Variant (rsID / SNP)

rs781838005

rs781838005 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLA. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

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.239G>A (p.Gly80Asp)
Allele change: Silent

Associated conditions / phenotypes

Migalastat response|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.