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Variant (rsID / SNP)

rs72558200

ABCC2

rs72558200 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC2. Location: chromosome 10, position 101,595,882. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ABCC2Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
10:101595882
Cytoband
10q24.2
HGVS
NM_000392.5(ABCC2):c.3449G>A (p.Arg1150His)
Allele change
Missense_R1150H

Associated conditions / phenotypes

Dubin-Johnson syndrome

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.