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Variant (rsID / SNP)

rs34315917

ATP8B1

rs34315917 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP8B1. Location: chromosome 18, position 55,359,082. 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
18:55359082
Cytoband
18q21.31
HGVS
NM_001374385.1(ATP8B1):c.1177A>G (p.Ile393Val)
Allele change
Missense_I393V

Associated conditions / phenotypes

Progressive familial 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.