Variant (rsID / SNP)

rs142231389

rs142231389 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP8B1. Location: chromosome 18, position 55,352,339. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ATP8B1Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 18:55352339
Cytoband: 18q21.31
HGVS: NM_001374385.1(ATP8B1):c.1438C>T (p.Arg480Trp)
Allele change: Missense_R480W

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.