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Variant (rsID / SNP)

rs148195895

ST3GAL5

rs148195895 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ST3GAL5. Location: chromosome 2, position 86,067,312. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ST3GAL5Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:86067312
Cytoband
2p11.2
HGVS
NM_003896.4(ST3GAL5):c.1212G>A (p.Glu404=)
Allele change
Synonymous_E276E

Associated conditions / phenotypes

GM3 synthase deficiency

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.