Variant (rsID / SNP)

rs34599082

rs34599082 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ACKR1. Location: chromosome 1, position 159,175,494. Clinical significance in the table: Pathogenic.

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Reference-table entries

ACKR1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:159175494
Cytoband: 1q23.2
HGVS: NM_002036.4(ACKR1):c.265C>T (p.Arg89Cys)
Allele change: Missense_R89C

Associated conditions / phenotypes

DUFFY BLOOD GROUP SYSTEM, FY(bwk) 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.