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Variant (rsID / SNP)

rs199514789

ABCB11

rs199514789 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCB11. Location: chromosome 2, position 169,792,786. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ABCB11Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
2:169792786
Cytoband
2q31.1
HGVS
NM_003742.4(ABCB11):c.2768C>T (p.Thr923Ile)
Allele change
Missense_T923I

Associated conditions / phenotypes

Progressive familial intrahepatic cholestasis type 2

Public references

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