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Variant (rsID / SNP)

rs147330005

ST3GAL3

rs147330005 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ST3GAL3. Location: chromosome 1, position 44,202,061. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ST3GAL3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:44202061
Cytoband
1p34.1
HGVS
NM_006279.5(ST3GAL3):c.118+10G>C
Allele change
Missense_S43T

Associated conditions / phenotypes

Early infantile epileptic encephalopathy with suppression bursts

Public references

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