Variant (rsID / SNP)

rs28934588

rs28934588 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FUT1. Location: chromosome 19, position 49,253,814. Clinical significance in the table: Pathogenic; Affects.

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Reference-table entries

FUT1Pathogenic

Clinical significance (as recorded): Pathogenic; Affects
Variant type: single nucleotide variant
Chromosome / position: 19:49253814
Cytoband: 19q13.33
HGVS: NM_001384359.1(FUT1):c.725T>G (p.Leu242Arg)
Allele change: Missense_L242R

Associated conditions / phenotypes

BOMBAY PHENOTYPE, DIGENIC|Bombay phenotype

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.