Variant (rsID / SNP)
rs398123197
rs398123197 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLA. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
GLAPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Insertion
- Cytoband
- Xq22.1
- HGVS
- NM_000169.3(GLA):c.1019_1020insA (p.Trp340Ter)
Associated conditions / phenotypes
Fabry disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.