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Variant (rsID / SNP)

rs8187788

ABCB4

rs8187788 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCB4. Location: chromosome 7, position 87,092,143. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ABCB4Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
7:87092143
Cytoband
7q21.12
HGVS
NM_000443.4(ABCB4):c.217C>G (p.Leu73Val)
Allele change
Missense_L73V

Associated conditions / phenotypes

Cholestasis, intrahepatic, of pregnancy, 3|Low phospholipid associated cholelithiasis|Progressive familial intrahepatic cholestasis type 3|Cholestasis, intrahepatic, of pregnancy, 3

Public references

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