Variant (rsID / SNP)

rs1138484

rs1138484 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ST3GAL5. Location: chromosome 2, position 86,088,311. Clinical significance in the table: Benign.

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Reference-table entries

ST3GAL5Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:86088311
Cytoband: 2p11.2
HGVS: NM_003896.4(ST3GAL5):c.311A>G (p.His104Arg)
Allele change: Silent

Associated conditions / phenotypes

GM3 synthase deficiency

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.