Variant (rsID / SNP)

rs28935490

rs28935490 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to GLA, RPL36A-HNRNPH2. Clinical significance in the table: Conflicting interpretations of pathogenicity; other.

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Reference-table entries

GLAConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity; other
Variant type: single nucleotide variant
Cytoband: Xq22.1
HGVS: NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)
Allele change: Silent

Associated conditions / phenotypes

Fabry disease|Sudden unexplained death|Cardiovascular phenotype|Hypertrophic cardiomyopathy|Cardiomyopathy

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.