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Variant (rsID / SNP)

rs45476795

ABCB4

rs45476795 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ABCB4. Location: chromosome 7, position 87,056,178. 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
7:87056178
Cytoband
7q21.12
HGVS
NM_000443.4(ABCB4):c.1952C>A (p.Thr651Asn)
Allele change
Missense_T651N

Associated conditions / phenotypes

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.