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UTP4

Synonyms
CIRH1A, CIRHIN, NAIC, TEX292
External resources
Summary
This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. Alternative splicing results in multiple transcript variants.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
2,657
Likely benign
2,958
Benign
101

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on UTP4 gene.

Phenotype class
Patients in 3billion (%)

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