Variant (rsID / SNP)

rs8187692

rs8187692 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC2. Location: chromosome 10, position 101,595,975. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

ABCC2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 10:101595975
Cytoband: 10q24.2
HGVS: NM_000392.5(ABCC2):c.3542G>T (p.Arg1181Leu)
Allele change: Missense_R1181L

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.