Variant (rsID / SNP)

rs17222547

rs17222547 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC2. Location: chromosome 10, position 101,591,385. Clinical significance in the table: Pathogenic.

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Reference-table entries

ABCC2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 10:101591385
Cytoband: 10q24.2
HGVS: NM_000392.5(ABCC2):c.2901C>A (p.Tyr967Ter)
Allele change: Nonsense_Y967X

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.