Variant (rsID / SNP)

rs17222540

rs17222540 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC2. Location: chromosome 10, position 101,591,818. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ABCC2Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 10:101591818
Cytoband: 10q24.2
HGVS: NM_000392.5(ABCC2):c.3188A>G (p.Asn1063Ser)
Allele change: Missense_N1063S

Associated conditions / phenotypes

Dubin-Johnson syndrome

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.