Variant (rsID / SNP)

rs138886989

rs138886989 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLA. Clinical significance in the table: Likely benign.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

GLALikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Cytoband: Xq22.1
HGVS: NM_000169.3(GLA):c.416A>G (p.Asn139Ser)
Allele change: Silent

Associated conditions / phenotypes

Cardiovascular phenotype|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.