Variant (rsID / SNP)
rs199590656
rs199590656 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ST3GAL5. Location: chromosome 2, position 86,075,181. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ST3GAL5Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 2:86075181
- Cytoband
- 2p11.2
- HGVS
- NM_003896.4(ST3GAL5):c.465G>A (p.Glu155=)
- Allele change
- Synonymous_E27E
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.