Variant (rsID / SNP)

rs2287616

rs2287616 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCB11. Location: chromosome 2, position 169,847,412. Clinical significance in the table: Benign.

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Reference-table entries

ABCB11Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 2:169847412
Cytoband: 2q31.1
HGVS: NM_003742.4(ABCB11):c.807T>C (p.Tyr269=)
Allele change: Synonymous_Y269Y

Associated conditions / phenotypes

Progressive familial intrahepatic cholestasis type 2

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.