Variant (rsID / SNP)

rs150074056

rs150074056 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to FUT1. Location: chromosome 19, position 49,254,190. Clinical significance in the table: Pathogenic.

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Reference-table entries

FUT1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 19:49254190
Cytoband: 19q13.33
HGVS: NM_001384359.1(FUT1):c.349C>T (p.His117Tyr)
Allele change: Missense_H117Y

Associated conditions / phenotypes

Para-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.