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Variant (rsID / SNP)

rs72552778

ABCB4

rs72552778 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCB4. Location: chromosome 7, position 87,076,396. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ABCB4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
7:87076396
Cytoband
7q21.12
HGVS
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)
Allele change
Missense_S320F

Associated conditions / phenotypes

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

Public references

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