Variant (rsID / SNP)
rs201834329
rs201834329 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ST3GAL3. Location: chromosome 1, position 44,363,909. Clinical significance in the table: Uncertain significance.
Reference-table entries
ST3GAL3Uncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:44363909
- Cytoband
- 1p34.1
- HGVS
- NM_006279.5(ST3GAL3):c.400A>T (p.Asn134Tyr)
- Allele change
- Silent
Associated conditions / phenotypes
Early infantile epileptic encephalopathy with suppression bursts|History of neurodevelopmental disorder|Intellectual disability, autosomal recessive 12|Developmental and epileptic encephalopathy, 15
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
