Variant (rsID / SNP)

rs17222596

rs17222596 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCC2. Location: chromosome 10, position 101,544,490. 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: 10:101544490
Cytoband: 10q24.2
HGVS: NM_000392.5(ABCC2):c.159A>G (p.Lys53=)
Allele change: Synonymous_K53K

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.