Variant (rsID / SNP)

rs146599962

rs146599962 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP8B1. Location: chromosome 18, position 55,398,906. Clinical significance in the table: Likely benign.

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Reference-table entries

ATP8B1Likely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 18:55398906
Cytoband: 18q21.31
HGVS: NM_001374385.1(ATP8B1):c.134A>C (p.Asn45Thr)
Allele change: Missense_N45T

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.