Variant (rsID / SNP)

rs3745078

rs3745078 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ATP8B1. Location: chromosome 18, position 55,342,156. Clinical significance in the table: Benign.

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Reference-table entries

ATP8B1Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 18:55342156
Cytoband: 18q21.31
HGVS: NM_001374385.1(ATP8B1):c.1729A>G (p.Ile577Val)
Allele change: Missense_I577V

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.