Variant (rsID / SNP)

rs138221862

rs138221862 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC2. Location: chromosome 10, position 101,591,869. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ABCC2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 10:101591869
Cytoband: 10q24.2
HGVS: NM_000392.5(ABCC2):c.3239T>C (p.Ile1080Thr)
Allele change: Missense_I1080T

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.