CP

ceruloplasmin

Summary

The protein encoded by this gene is a metalloprotein that binds most of the copper in plasma and is involved in the peroxidation of Fe(II)transferrin to Fe(III) transferrin. Mutations in this gene cause aceruloplasminemia, which results in iron accumulation and tissue damage, and is associated with diabetes and neurologic abnormalities. Two transcript variants, one protein-coding and the other not protein-coding, have been found for this gene. [provided by RefSeq, Feb 2012]

Known Variants533 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs397507168	3:148,881,627	A/G	splice region variant	pathogenic
rs281865095	3:148,881,737	G/T	splice region variant	pathogenic
rs281865096	3:148,888,270	G/A	—	pathogenic
rs112764171	3:148,891,461	G/A	—	uncertain significance
rs1223476535	3:148,891,513	G/T	—	likely benign
rs749381794	3:148,891,514	G/T	—	uncertain significance
rs184845153	3:148,891,516	G/A	—	likely benign
rs1467086016	3:148,891,524	A/T	—	likely benign
rs34706715	3:148,891,649	A/G	—	benign
rs34182287	3:148,891,768	G/T	—	likely benign
rs34296476	3:148,891,828	T/C	—	likely benign
rs767245235	3:148,894,026	T/G	—	likely benign
rs1409388514	3:148,894,078	T/A	—	uncertain significance
rs149217680	3:148,894,088	C/T	—	uncertain significance
rs780628889	3:148,894,095	A/T	—	uncertain significance
rs2472723019	3:148,894,100	A/G	—	uncertain significance
rs2472723042	3:148,894,107	T/C	—	likely benign
rs1234930172	3:148,894,117	C/G	—	uncertain significance
rs143407857	3:148,894,142	G/A	—	likely benign
rs2472723567	3:148,894,190	C/T	—	uncertain significance
rs1576725658	3:148,894,194	C/T	—	likely benign
rs775322417	3:148,894,197	G/C	—	uncertain significance
rs386134142	3:148,894,200	C/T	—	pathogenic
rs36027953	3:148,894,357	T/G	—	benign
rs141785513	3:148,894,364	A/T	—	likely benign
rs17787768	3:148,895,531	G/C	—	benign
rs1349583118	3:148,895,619	G/A	—	likely benign
rs2108214389	3:148,895,634	T/C	—	uncertain significance
rs199877380	3:148,895,639	G/A	—	conflicting classifications of pathogenicity
rs1725516642	3:148,895,641	T/A	—	uncertain significance
rs775375848	3:148,895,642	A/G	—	likely benign
rs187293972	3:148,895,647	C/T	—	uncertain significance
rs147475926	3:148,895,648	G/A	—	likely benign
rs34394958	3:148,895,654	A/G	synonymous variant	likely benign
rs774951664	3:148,895,658	A/G	—	uncertain significance
rs2472730025	3:148,895,667	A/G	—	uncertain significance
rs1363458430	3:148,895,668	A/G	—	likely benign
rs386134133	3:148,895,683	C/T	missense variant	not provided
rs1460906961	3:148,895,684	C/T	—	uncertain significance
rs556278892	3:148,895,685	A/G	—	uncertain significance
rs386134132	3:148,895,692	T/C	missense variant	pathogenic
rs752058749	3:148,895,693	C/T	—	likely benign
rs1366061971	3:148,895,698	A/G	—	uncertain significance
rs1426360265	3:148,895,711	A/G	—	likely benign
rs192063766	3:148,895,719	C/T	—	uncertain significance
rs377478882	3:148,895,720	G/A	—	likely benign
rs370673560	3:148,895,745	C/G	—	uncertain significance
rs1225488846	3:148,895,759	A/C	—	uncertain significance
rs386134141	3:148,895,767	C/A	—	pathogenic
rs1406530488	3:148,895,768	T/C	—	pathogenic
rs34504513	3:148,896,005	G/A	—	benign
rs36099841	3:148,896,105	T/C	—	benign
rs75520320	3:148,896,188	A/G	—	benign
rs35848147	3:148,896,190	A/C	—	likely benign
rs769666265	3:148,896,193	G/A	—	likely benign
rs371031293	3:148,896,195	G/T	—	likely benign
rs1725556395	3:148,896,216	C/T	—	uncertain significance
rs2472732715	3:148,896,220	C/T	—	uncertain significance
rs201431095	3:148,896,233	A/C	—	uncertain significance
rs1185823259	3:148,896,243	T/C	—	uncertain significance
rs2108216294	3:148,896,245	T/C	—	likely benign
rs2472732863	3:148,896,249	T/C	—	uncertain significance
rs571448440	3:148,896,253	C/T	—	uncertain significance
rs781046060	3:148,896,264	G/C	—	uncertain significance
rs754196400	3:148,896,269	T/C	—	likely benign
rs758103380	3:148,896,282	T/G	—	uncertain significance
rs34987997	3:148,896,287	T/C	—	conflicting classifications of pathogenicity
rs958621868	3:148,896,290	G/A	—	likely benign
rs2108216572	3:148,896,298	A/T	—	uncertain significance
rs1725565373	3:148,896,318	A/G	—	uncertain significance
rs1135401784	3:148,896,324	A/G	—	pathogenic
rs147434775	3:148,896,339	A/C	—	uncertain significance
rs748974665	3:148,896,348	C/A	—	uncertain significance
rs2108216869	3:148,896,376	T/G	—	likely benign
rs386134156	3:148,896,379	G/A	stop gained	pathogenic
rs2472733723	3:148,896,382	A/G	—	uncertain significance
rs17847022	3:148,896,383	A/G	—	conflicting classifications of pathogenicity
rs386134153	3:148,896,390	—	—	pathogenic
rs1415343557	3:148,896,393	G/A	—	uncertain significance
rs139633388	3:148,896,396	C/G	missense variant	pathogenic
rs148809294	3:148,896,399	A/G	—	uncertain significance
rs769138783	3:148,896,403	A/C	—	uncertain significance
rs386134131	3:148,896,405	C/T	missense variant	pathogenic
rs1043139127	3:148,896,410	G/C	—	pathogenic
rs576931228	3:148,896,411	T/C	—	uncertain significance
rs1007779298	3:148,896,421	G/A	—	uncertain significance
rs16861582	3:148,896,430	G/A	—	benign
rs200646301	3:148,896,431	A/G	—	likely benign
rs189155564	3:148,896,432	A/G	—	conflicting classifications of pathogenicity
rs1523514	3:148,896,541	A/G	—	likely benign
rs35653745	3:148,897,210	A/C	—	benign
rs2472737787	3:148,897,352	A/T	—	uncertain significance
rs2108219609	3:148,897,354	C/G	—	uncertain significance
rs774060244	3:148,897,368	T/A	—	uncertain significance
rs121909579	3:148,897,374	C/T	stop gained	pathogenic
rs767188986	3:148,897,378	G/A	—	uncertain significance
rs1476395711	3:148,897,382	A/G	—	likely benign
rs570400135	3:148,897,383	C/T	—	uncertain significance
rs1472131747	3:148,897,387	C/T	—	uncertain significance
rs529607771	3:148,897,393	C/T	—	conflicting classifications of pathogenicity

Showing 100 of 533 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.