Variant (rsID / SNP)

rs17855739

rs17855739 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FUT6. Location: chromosome 19, position 5,831,840. Clinical significance in the table: Uncertain significance.

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Reference-table entries

FUT6Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 19:5831840
Cytoband: 19p13.3
HGVS: NM_000150.4(FUT6):c.739G>A (p.Glu247Lys)
Allele change: Missense_E247K

Associated conditions / phenotypes

Fucosyltransferase 6 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.