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Variant (rsID / SNP)

rs34719006

ATP8B1

rs34719006 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP8B1. Location: chromosome 18, position 55,373,793. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

ATP8B1Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
18:55373793
Cytoband
18q21.31
HGVS
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn)
Allele change
Missense_D70N

Associated conditions / phenotypes

Cholestasis, intrahepatic, of pregnancy, 1|Progressive familial intrahepatic cholestasis type 2|Progressive familial intrahepatic cholestasis type 1|Benign recurrent intrahepatic cholestasis type 1

Public references

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