TFRC

transferrin receptor

Summary

This gene encodes a cell surface receptor necessary for cellular iron uptake by the process of receptor-mediated endocytosis. This receptor is required for erythropoiesis and neurologic development. Multiple alternatively spliced variants have been identified. [provided by RefSeq, Sep 2015]

Known Variants474 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1050153	3:195,776,315	G/A	—	—
rs770759846	3:195,778,819	C/T	—	likely benign
rs780984255	3:195,778,828	A/C	—	uncertain significance
rs141165322	3:195,778,839	C/T	—	uncertain significance
rs1032124064	3:195,778,849	G/C	—	likely benign
rs1716349558	3:195,778,881	T/C	—	uncertain significance
rs1451962996	3:195,778,885	T/C	—	likely benign
rs1291674789	3:195,778,887	G/C	—	uncertain significance
rs1358583994	3:195,778,898	T/C	—	uncertain significance
rs1461496815	3:195,778,903	G/C	—	conflicting classifications of pathogenicity
rs202242239	3:195,778,910	G/A	—	uncertain significance
rs2108632019	3:195,778,911	T/C	—	uncertain significance
rs536971550	3:195,778,926	C/T	—	uncertain significance
rs555617767	3:195,778,927	G/A	—	likely benign
rs2108632048	3:195,778,931	T/C	—	uncertain significance
rs200232625	3:195,778,940	C/T	—	uncertain significance
rs764730449	3:195,778,941	G/A	—	uncertain significance
rs1324803719	3:195,778,945	T/C	—	likely benign
rs1050609516	3:195,778,948	C/T	—	likely benign
rs1011217415	3:195,778,965	C/T	—	uncertain significance
rs1805051	3:195,778,972	C/T	—	benign
rs866295059	3:195,778,973	G/A	—	uncertain significance
rs779799947	3:195,778,981	G/T	—	likely benign
rs146993606	3:195,778,984	G/A	—	likely benign
rs370641169	3:195,778,985	G/C	—	uncertain significance
rs534595346	3:195,778,995	A/C	—	uncertain significance
rs1716365892	3:195,779,002	T/G	—	likely benign
rs141765565	3:195,779,020	T/C	—	likely benign
rs1027497110	3:195,779,021	G/C	—	uncertain significance
rs577771580	3:195,779,028	C/T	—	uncertain significance
rs777181863	3:195,779,030	T/C	—	uncertain significance
rs762292110	3:195,779,032	G/C	—	likely benign
rs1560063705	3:195,779,053	C/T	—	uncertain significance
rs182030065	3:195,779,059	C/T	—	likely benign
rs1179412730	3:195,779,060	G/A	—	likely benign
rs1414577303	3:195,779,070	C/T	—	likely benign
rs1426795526	3:195,779,071	A/G	—	uncertain significance
rs41298097	3:195,779,155	C/T	—	benign
rs34906439	3:195,779,706	A/G	intron variant	—
rs41298087	3:195,779,736	C/T	intron variant	—
rs41298085	3:195,779,812	C/T	intron variant	—
rs1392368109	3:195,780,269	T/C	—	likely benign
rs144481270	3:195,780,297	C/T	—	uncertain significance
rs41298067	3:195,780,299	C/T	—	uncertain significance
rs148008500	3:195,780,300	G/A	—	uncertain significance
rs1716508268	3:195,780,302	T/C	—	uncertain significance
rs141608481	3:195,780,305	T/C	—	uncertain significance
rs150520746	3:195,780,319	G/C	—	likely benign
rs2473932627	3:195,780,324	A/G	—	uncertain significance
rs778633565	3:195,780,332	G/C	—	uncertain significance
rs1191715950	3:195,780,337	C/T	—	likely benign
rs745484177	3:195,780,348	C/G	—	uncertain significance
rs1462765329	3:195,780,349	G/A	—	likely benign
rs2473932859	3:195,780,354	C/A	—	uncertain significance
rs1560065283	3:195,780,355	T/C	—	likely benign
rs748490018	3:195,780,357	T/C	—	uncertain significance
rs1716517216	3:195,780,377	C/T	—	uncertain significance
rs770264782	3:195,780,379	G/A	—	likely benign
rs1577214572	3:195,780,388	T/C	—	likely benign
rs2473933093	3:195,780,394	A/G	—	likely benign
rs1229248979	3:195,780,407	C/A	—	uncertain significance
rs2473933204	3:195,780,417	T/G	—	uncertain significance
rs1048810326	3:195,780,437	A/G	—	likely benign
rs544546188	3:195,780,439	A/T	—	likely benign
rs767665648	3:195,780,447	C/T	—	likely benign
rs41298063	3:195,780,677	C/T	—	benign
rs557527	3:195,780,709	G/A	—	benign
rs41297539	3:195,781,934	T/C	—	likely benign
rs2108635482	3:195,781,958	T/A	—	uncertain significance
rs772281807	3:195,781,960	T/C	—	likely benign
rs1716659986	3:195,781,969	T/G	—	uncertain significance
rs977025882	3:195,781,972	G/A	—	likely benign
rs1221918243	3:195,781,979	T/G	—	uncertain significance
rs755668140	3:195,781,981	C/T	—	likely benign
rs2473937115	3:195,781,988	A/G	—	uncertain significance
rs199502112	3:195,782,006	T/C	—	uncertain significance
rs925017138	3:195,782,011	C/A	—	uncertain significance
rs1351055897	3:195,782,018	T/C	—	uncertain significance
rs1405260372	3:195,782,022	C/T	—	uncertain significance
rs1350015599	3:195,782,029	C/A	—	uncertain significance
rs2473937293	3:195,782,032	T/C	—	likely benign
rs149088653	3:195,782,037	C/T	—	uncertain significance
rs2473937365	3:195,782,045	G/C	—	uncertain significance
rs2108635587	3:195,782,053	A/T	—	likely benign
rs377249426	3:195,782,055	T/C	—	uncertain significance
rs144131234	3:195,782,058	C/T	—	uncertain significance
rs768871682	3:195,782,070	C/T	—	uncertain significance
rs765967825	3:195,782,071	G/A	—	likely benign
rs751145316	3:195,782,074	C/T	—	likely benign
rs2473937590	3:195,782,085	C/A	—	uncertain significance
rs754713292	3:195,782,087	C/T	—	uncertain significance
rs778065901	3:195,782,099	T/C	—	uncertain significance
rs754235174	3:195,782,124	G/A	—	likely benign
rs779763743	3:195,782,132	T/C	—	uncertain significance
rs779407648	3:195,782,151	C/T	—	uncertain significance
rs746444931	3:195,782,155	A/G	—	likely benign
rs571673598	3:195,782,160	G/A	—	uncertain significance
rs780221091	3:195,782,168	G/A	—	uncertain significance
rs1458864012	3:195,782,169	T/C	—	uncertain significance
rs769019945	3:195,782,175	G/A	—	uncertain significance

Showing 100 of 474 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.