Variant (rsID / SNP)

rs11568372

rs11568372 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCB11. Location: chromosome 2, position 169,847,329. Clinical significance in the table: Pathogenic.

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Reference-table entries

ABCB11Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 2:169847329
Cytoband: 2q31.1
HGVS: NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly)
Allele change: Missense_E297G

Associated conditions / phenotypes

Progressive familial intrahepatic cholestasis type 2|Benign recurrent intrahepatic cholestasis type 2|Progressive familial intrahepatic cholestasis|Cholestasis, intrahepatic, of pregnancy, 3

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.