Variant (rsID / SNP)

rs121909098

rs121909098 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP8B1. Location: chromosome 18, position 55,328,439. Clinical significance in the table: Pathogenic.

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Reference-table entries

ATP8B1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 18:55328439
Cytoband: 18q21.31
HGVS: NM_001374385.1(ATP8B1):c.2674G>A (p.Gly892Arg)
Allele change: Silent

Associated conditions / phenotypes

Progressive familial intrahepatic cholestasis type 1

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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