UTP4

UTP4 small subunit processome component

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. [provided by RefSeq, Jan 2016]

Known Variants109 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1962709947	16:69,167,358	T/C	—	uncertain significance
rs895142389	16:69,167,398	T/C	—	likely benign
rs141243868	16:69,167,419	C/A	—	uncertain significance
rs146966335	16:69,167,436	A/G	—	uncertain significance
rs74886292	16:69,167,460	T/C	—	uncertain significance
rs1030203914	16:69,167,477	A/G	—	uncertain significance
rs1011769950	16:69,170,654	A/G	—	uncertain significance
rs776624025	16:69,170,677	A/C	—	uncertain significance
rs11541983	16:69,170,683	G/A	—	uncertain significance
rs16958656	16:69,170,709	G/A	—	benign
rs144369314	16:69,170,741	G/T	—	conflicting classifications of pathogenicity
rs941707024	16:69,170,784	A/G	—	likely benign
rs1962851495	16:69,171,770	A/G	—	uncertain significance
rs200047779	16:69,171,779	C/T	—	uncertain significance
rs201153482	16:69,173,755	C/A	—	likely benign
rs535751187	16:69,173,756	C/T	—	likely benign
rs1962914300	16:69,173,769	A/G	—	uncertain significance
rs370682701	16:69,177,085	C/T	—	uncertain significance
rs766781882	16:69,177,088	T/C	—	likely benign
rs142116140	16:69,177,089	G/T	—	likely benign
rs747759275	16:69,177,124	C/T	—	likely benign
rs146370056	16:69,177,125	G/A	—	uncertain significance
rs149282985	16:69,177,145	C/T	—	benign
rs144266389	16:69,177,169	C/T	—	likely benign
rs1963017242	16:69,177,186	G/A	—	uncertain significance
rs538321215	16:69,177,189	T/C	—	likely benign
rs147375559	16:69,177,205	G/A	—	likely benign
rs562684499	16:69,177,222	C/T	—	uncertain significance
rs2288036	16:69,177,268	C/T	—	benign
rs748353799	16:69,177,292	C/A	—	uncertain significance
rs544303361	16:69,177,453	A/G	—	—
rs7196706	16:69,181,874	C/T	intron variant	—
rs373200948	16:69,184,434	C/G	—	uncertain significance
rs375128162	16:69,184,455	G/T	—	uncertain significance
rs2544400532	16:69,184,462	G/A	—	uncertain significance
rs755447937	16:69,184,469	C/A	—	likely benign
rs2544400632	16:69,184,500	C/G	—	uncertain significance
rs150182351	16:69,184,547	G/A	—	conflicting classifications of pathogenicity
rs771955667	16:69,184,568	C/T	—	likely benign
rs773025409	16:69,184,572	C/T	—	uncertain significance
rs760350216	16:69,184,573	G/A	—	uncertain significance
rs147819992	16:69,184,577	T/C	—	likely benign
rs554532839	16:69,184,598	G/A	—	likely benign
rs2544401202	16:69,184,733	G/A	—	uncertain significance
rs758406726	16:69,184,738	T/G	—	uncertain significance
rs138645239	16:69,184,762	A/G	—	benign
rs148894405	16:69,184,774	C/T	—	benign
rs763509506	16:69,184,781	G/A	—	uncertain significance
rs766637431	16:69,184,813	T/C	—	likely benign
rs370811526	16:69,184,822	C/T	—	uncertain significance
rs1272147850	16:69,187,470	T/C	—	likely benign
rs138151655	16:69,187,498	C/T	—	benign
rs184771566	16:69,187,534	G/A	—	likely benign
rs34747774	16:69,187,567	A/G	—	conflicting classifications of pathogenicity
rs1331790193	16:69,187,580	A/G	—	uncertain significance
rs187936276	16:69,188,366	G/A	—	likely benign
rs112053857	16:69,188,368	A/G	—	likely benign
rs200957784	16:69,189,767	T/C	—	conflicting classifications of pathogenicity
rs138998503	16:69,189,792	T/C	—	conflicting classifications of pathogenicity
rs772154514	16:69,189,858	C/T	—	uncertain significance
rs149792921	16:69,189,866	T/C	—	benign
rs201384904	16:69,189,900	A/G	—	likely benign
rs201299923	16:69,189,902	T/C	—	uncertain significance
rs373719264	16:69,190,968	A/G	—	likely benign
rs140221825	16:69,191,007	C/T	—	uncertain significance
rs8056684	16:69,191,012	G/A	—	likely benign
rs200162340	16:69,191,016	T/A	—	uncertain significance
rs749653993	16:69,191,066	C/T	—	uncertain significance
rs1060499849	16:69,191,071	C/T	—	uncertain significance
rs141398922	16:69,191,075	G/A	—	uncertain significance
rs1963440330	16:69,191,100	A/T	—	likely benign
rs201088638	16:69,191,149	A/C	—	uncertain significance
rs199824083	16:69,194,265	T/G	—	uncertain significance
rs150828561	16:69,194,272	C/T	—	likely benign
rs2544417554	16:69,194,275	G/A	—	uncertain significance
rs139907414	16:69,194,311	A/G	—	likely benign
rs1203360706	16:69,194,317	A/C	—	likely benign
rs1250960397	16:69,194,324	A/G	—	uncertain significance
rs200233638	16:69,194,341	T/C	—	likely benign
rs144493973	16:69,194,350	C/T	—	conflicting classifications of pathogenicity
rs750196540	16:69,196,998	G/A	—	uncertain significance
rs2544422586	16:69,197,042	C/G	—	likely benign
rs138922775	16:69,197,044	A/G	—	uncertain significance
rs1031659078	16:69,197,055	C/T	—	uncertain significance
rs554592005	16:69,197,063	C/T	—	likely benign
rs978512483	16:69,199,234	C/G	—	likely benign
rs1963675848	16:69,199,273	G/T	—	uncertain significance
rs119465999	16:69,199,289	C/T	missense variant	uncertain significance
rs2544427213	16:69,199,315	C/T	—	likely benign
rs1567383445	16:69,199,351	C/T	—	likely benign
rs375859741	16:69,199,375	G/A	—	likely benign
rs75998507	16:69,199,384	C/T	—	benign
rs1417609006	16:69,199,393	T/C	—	likely benign
rs2544427435	16:69,199,402	C/T	—	likely benign
rs367714898	16:69,199,426	A/G	—	likely benign
rs960073032	16:69,201,004	C/G	—	likely benign
rs147861095	16:69,201,025	G/A	—	likely benign
rs139624123	16:69,201,045	G/A	—	uncertain significance
rs761295812	16:69,201,048	G/A	—	uncertain significance
rs61185783	16:69,201,050	C/T	—	benign

Showing 100 of 109 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.