ATP8B1 - Gene browser

ATP8B1

ATPase phospholipid transporting 8B1

HCNC Approved Symbol: ATP8B1 (HGNC:3706)
Genomic Coordinates: 18:57,646,426 - 57,803,315 (18q21.31)
Synonyms: ATPIC, PFIC, FIC1, BRIC, PFIC1
Disease Associations: This gene is associated with the following 3 diseases in OMIM.

Diagnosed Cases

8Patients

In total, 8 patients were diagnosed with a variant in the ATP8B1 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

08
Patient count

Anisopoikilocytosis: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Conjugated hyperbilirubinemia: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Deficient in vitamin d: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Elevated alkaline phosphatase: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)
Elevated alpha-fetoprotein: 2 (25.0%)
Patient Count: 2 (25.0%)
% of total patients presenting each phenotype is shown in parentheses.
2 (25.0%)