Variant (rsID / SNP)

rs869312138

rs869312138 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.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

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.107T>G (p.Leu36Trp)
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.