PEX13

peroxisomal biogenesis factor 13

Summary

This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome. [provided by RefSeq, Oct 2008]

Known Variants477 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs62150970	2:61,244,410	C/A	—	—
rs12988616	2:61,244,663	C/A	—	benign
rs571713221	2:61,244,827	C/T	—	uncertain significance
rs886056195	2:61,244,883	G/A	—	uncertain significance
rs200847026	2:61,244,888	G/A	—	conflicting classifications of pathogenicity
rs147461642	2:61,244,889	G/C	—	likely benign
rs1201215154	2:61,244,895	A/G	—	uncertain significance
rs573461186	2:61,244,900	G/T	—	likely benign
rs950397917	2:61,244,902	C/G	—	uncertain significance
rs745465894	2:61,244,903	C/T	—	conflicting classifications of pathogenicity
rs1171979724	2:61,244,905	A/C	—	uncertain significance
rs1160074188	2:61,244,906	G/A	—	likely benign
rs898062680	2:61,244,908	C/T	—	uncertain significance
rs769300208	2:61,244,912	A/G	—	conflicting classifications of pathogenicity
rs948971918	2:61,244,917	C/T	—	uncertain significance
rs774943691	2:61,244,918	C/A	—	conflicting classifications of pathogenicity
rs764069625	2:61,244,920	C/G	—	uncertain significance
rs1365913728	2:61,244,921	C/T	—	likely benign
rs1230492316	2:61,244,923	A/G	—	uncertain significance
rs1680108011	2:61,244,925	C/G	—	uncertain significance
rs564528921	2:61,244,926	C/T	—	uncertain significance
rs1680108410	2:61,244,927	C/G	—	likely benign
rs1164741641	2:61,244,936	C/A	—	likely benign
rs1311634962	2:61,244,937	C/T	—	uncertain significance
rs576438646	2:61,244,938	G/A	—	uncertain significance
rs1405144717	2:61,244,939	C/G	—	likely benign
rs1178588746	2:61,244,940	C/T	—	pathogenic
rs2104787557	2:61,244,947	C/T	—	uncertain significance
rs1002699754	2:61,244,948	G/A	—	conflicting classifications of pathogenicity
rs2104787633	2:61,244,953	C/G	—	uncertain significance
rs2467474162	2:61,244,954	C/T	—	likely benign
rs1249025009	2:61,244,956	G/A	—	uncertain significance
rs1466677796	2:61,244,958	C/T	—	uncertain significance
rs1264694420	2:61,244,960	G/A	—	likely benign
rs867920633	2:61,244,961	G/C	—	uncertain significance
rs936098967	2:61,244,962	G/A	—	uncertain significance
rs1559020589	2:61,244,963	A/T	—	likely benign
rs1680112668	2:61,244,964	C/T	—	uncertain significance
rs2467474547	2:61,244,978	C/T	—	likely benign
rs1680114069	2:61,244,979	A/G	—	uncertain significance
rs543856265	2:61,244,980	C/G	—	uncertain significance
rs771610641	2:61,244,983	T/C	—	uncertain significance
rs371266088	2:61,244,987	G/A	—	likely pathogenic
rs1291662088	2:61,244,992	T/C	—	uncertain significance
rs1367010348	2:61,244,993	G/T	—	likely benign
rs1387361776	2:61,244,996	G/A	—	likely benign
rs1680115622	2:61,245,001	C/T	—	likely benign
rs1453601258	2:61,245,002	T/G	—	likely benign
rs1351704766	2:61,245,004	C/A	—	likely benign
rs1303497941	2:61,245,006	G/C	—	likely benign
rs7602846	2:61,245,086	C/G	—	likely benign
rs57007118	2:61,245,198	A/G	—	benign
rs773183074	2:61,258,536	A/C	—	likely benign
rs760544518	2:61,258,542	T/A	—	likely benign
rs771340315	2:61,258,543	T/C	—	likely benign
rs777009999	2:61,258,546	G/C	—	likely benign
rs1168492424	2:61,258,553	G/A	—	likely pathogenic
rs759610758	2:61,258,555	T/C	—	uncertain significance
rs1035094645	2:61,258,556	C/A	—	uncertain significance
rs765390329	2:61,258,557	T/A	—	likely benign
rs1458042764	2:61,258,559	C/A	—	uncertain significance
rs752671523	2:61,258,564	T/A	—	uncertain significance
rs763566050	2:61,258,574	C/A	—	uncertain significance
rs778942066	2:61,258,576	T/G	—	uncertain significance
rs1351769986	2:61,258,577	T/C	—	uncertain significance
rs751987006	2:61,258,580	T/C	—	uncertain significance
rs757604504	2:61,258,582	A/G	—	uncertain significance
rs1282669816	2:61,258,583	C/T	—	uncertain significance
rs1680447870	2:61,258,584	A/G	—	likely benign
rs2467507368	2:61,258,585	A/C	—	likely benign
rs781477994	2:61,258,587	A/G	—	likely benign
rs753530129	2:61,258,588	C/T	—	uncertain significance
rs1281056404	2:61,258,591	G/A	—	uncertain significance
rs2467507392	2:61,258,593	A/G	—	likely benign
rs754544454	2:61,258,596	A/T	—	uncertain significance
rs2467507406	2:61,258,599	A/G	—	likely benign
rs1292631867	2:61,258,600	G/A	—	uncertain significance
rs79842991	2:61,258,602	A/G	—	likely benign
rs60203778	2:61,258,603	C/T	—	conflicting classifications of pathogenicity
rs776527517	2:61,258,608	C/A	—	likely benign
rs2104803197	2:61,258,612	G/A	—	uncertain significance
rs1210739309	2:61,258,615	C/A	—	uncertain significance
rs562629125	2:61,258,617	C/T	—	likely benign
rs149157399	2:61,258,624	A/G	—	uncertain significance
rs1292485549	2:61,258,627	C/T	—	uncertain significance
rs2467507502	2:61,258,635	G/A	—	likely benign
rs886056196	2:61,258,654	A/G	—	uncertain significance
rs752073595	2:61,258,660	A/C	—	uncertain significance
rs1553423403	2:61,258,663	G/A	—	uncertain significance
rs762236368	2:61,258,665	G/T	—	likely benign
rs1338444377	2:61,258,666	A/T	—	uncertain significance
rs1345007456	2:61,258,667	A/G	—	uncertain significance
rs2467507570	2:61,258,669	A/G	—	uncertain significance
rs2104803233	2:61,258,670	C/G	—	uncertain significance
rs767895802	2:61,258,678	C/G	—	uncertain significance
rs747030355	2:61,258,680	T/C	—	likely benign
rs1680449768	2:61,258,683	T/C	—	likely benign
rs148296743	2:61,258,687	A/G	—	conflicting classifications of pathogenicity
rs150161574	2:61,258,690	T/A	—	conflicting classifications of pathogenicity
rs2467507620	2:61,258,700	C/T	—	uncertain significance

Showing 100 of 477 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.