Variant (rsID / SNP)

rs200190472

rs200190472 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCG2. Location: chromosome 4, position 89,039,366. Clinical significance in the table: Affects.

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Reference-table entries

ABCG2Other

Clinical significance (as recorded): Affects
Variant type: single nucleotide variant
Chromosome / position: 4:89039366
Cytoband: 4q22.1
HGVS: NM_004827.3(ABCG2):c.736C>T (p.Arg246Ter)
Allele change: Nonsense_R246X

Associated conditions / phenotypes

Blood group, Junior system

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.