Variant (rsID / SNP)

rs730880454

rs730880454 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLA. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GLAPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: Deletion
Cytoband: Xq22.1
HGVS: NM_000169.3(GLA):c.80del (p.Pro27fs)

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.