C19orf12

chromosome 19 open reading frame 12

Summary

This gene encodes a small transmembrane protein. Mutations in this gene are a cause of neurodegeneration with brain iron accumulation-4 (NBIA4), but the specific function of the encoded protein is unknown. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

Known Variants248 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs112945856	19:30,189,786	A/T	—	likely benign
rs11879584	19:30,189,800	A/C	—	benign
rs140771696	19:30,189,874	C/T	—	uncertain significance
rs1180327296	19:30,189,922	G/A	—	uncertain significance
rs886054310	19:30,189,947	G/A	—	uncertain significance
rs74868577	19:30,190,048	G/A	—	benign
rs886054311	19:30,190,099	G/A	—	uncertain significance
rs62105838	19:30,190,101	G/A	—	uncertain significance
rs886054312	19:30,190,127	C/A	—	uncertain significance
rs150123154	19:30,190,156	C/T	—	benign
rs138368723	19:30,190,202	G/A	—	uncertain significance
rs182700680	19:30,190,219	A/T	—	uncertain significance
rs117537955	19:30,190,247	A/G	—	benign
rs753828295	19:30,190,262	C/T	—	uncertain significance
rs754929270	19:30,190,267	G/A	—	uncertain significance
rs868247639	19:30,190,282	C/T	—	uncertain significance
rs10414583	19:30,190,283	G/A	—	benign
rs779057343	19:30,190,305	G/A	—	uncertain significance
rs547761506	19:30,190,315	A/G	—	likely benign
rs1050118432	19:30,190,319	G/A	—	uncertain significance
rs886054313	19:30,190,325	G/C	—	uncertain significance
rs778264130	19:30,190,331	A/C	—	uncertain significance
rs1455514664	19:30,190,347	G/A	—	uncertain significance
rs886054314	19:30,190,377	G/A	—	uncertain significance
rs769521665	19:30,190,402	A/G	—	uncertain significance
rs1175463014	19:30,190,528	T/A	—	uncertain significance
rs377009197	19:30,190,593	C/G	—	uncertain significance
rs10417597	19:30,190,658	G/A	—	benign
rs113943151	19:30,190,663	C/A	—	uncertain significance
rs571030466	19:30,190,726	C/T	—	benign
rs147421675	19:30,190,835	G/C	—	likely benign
rs80024917	19:30,190,841	G/A	—	benign
rs113735809	19:30,190,856	T/C	—	benign
rs761466058	19:30,190,887	C/T	—	uncertain significance
rs569552156	19:30,190,927	G/A	—	likely benign
rs113017735	19:30,190,928	T/C	—	uncertain significance
rs981370297	19:30,190,948	T/G	—	uncertain significance
rs78094750	19:30,190,957	G/A	—	benign
rs183432713	19:30,190,998	G/A	—	uncertain significance
rs746421147	19:30,191,170	C/T	—	uncertain significance
rs887855599	19:30,191,235	G/A	—	uncertain significance
rs76746960	19:30,191,246	C/A	—	uncertain significance
rs1464022204	19:30,191,291	C/T	—	uncertain significance
rs370293548	19:30,191,309	G/A	—	likely benign
rs748603317	19:30,191,349	A/C	—	uncertain significance
rs535994327	19:30,191,397	T/G	—	uncertain significance
rs796818328	19:30,191,411	C/T	—	uncertain significance
rs1486513005	19:30,191,412	G/A	—	uncertain significance
rs73548135	19:30,191,433	G/A	—	benign
rs184117483	19:30,191,502	C/T	—	benign
rs74854677	19:30,191,519	A/C	—	benign
rs529341141	19:30,191,561	A/G	—	uncertain significance
rs1972043921	19:30,191,675	T/C	—	uncertain significance
rs148675828	19:30,191,679	A/G	—	uncertain significance
rs528651591	19:30,191,722	T/A	—	uncertain significance
rs112656442	19:30,191,739	A/G	—	uncertain significance
rs1188670767	19:30,191,749	C/G	—	uncertain significance
rs565402320	19:30,191,765	C/T	—	likely benign
rs1045611042	19:30,191,779	C/A	—	uncertain significance
rs761080233	19:30,191,792	C/G	—	uncertain significance
rs192407663	19:30,191,793	C/A	—	likely benign
rs7255131	19:30,191,933	A/G	—	benign
rs751700304	19:30,191,948	G/A	—	uncertain significance
rs116378078	19:30,191,953	C/T	—	benign
rs1470866753	19:30,191,971	G/A	—	uncertain significance
rs537395968	19:30,192,024	C/T	—	uncertain significance
rs113641934	19:30,192,027	T/C	—	uncertain significance
rs116963085	19:30,192,062	A/G	—	likely benign
rs182215624	19:30,192,083	A/G	—	likely benign
rs777128142	19:30,192,131	A/C	—	uncertain significance
rs886054316	19:30,192,166	G/A	—	uncertain significance
rs116160531	19:30,192,206	C/T	—	likely benign
rs113343769	19:30,192,257	C/A	—	uncertain significance
rs189239161	19:30,192,258	G/A	—	benign
rs775550079	19:30,192,393	G/A	—	uncertain significance
rs1129852	19:30,192,400	G/A	—	benign
rs1972082905	19:30,192,416	T/C	—	uncertain significance
rs886054317	19:30,192,441	G/T	—	uncertain significance
rs75930446	19:30,192,449	G/T	—	benign
rs150649006	19:30,192,460	G/A	—	uncertain significance
rs533617895	19:30,192,461	G/A	—	uncertain significance
rs62105840	19:30,192,474	T/C	—	benign
rs9566	19:30,192,475	A/G	—	benign
rs1048123	19:30,192,505	G/C	—	benign
rs767110273	19:30,192,508	T/C	—	uncertain significance
rs886054318	19:30,192,582	T/C	—	uncertain significance
rs1140197	19:30,192,599	G/T	—	benign
rs549030034	19:30,192,675	T/C	—	benign
rs3926	19:30,192,738	C/T	—	benign
rs112965744	19:30,192,805	C/T	—	uncertain significance
rs111648332	19:30,192,828	C/T	—	uncertain significance
rs770252476	19:30,192,901	C/A	—	uncertain significance
rs116245746	19:30,193,040	G/A	—	benign
rs1051290472	19:30,193,065	C/T	—	uncertain significance
rs112752558	19:30,193,078	C/T	—	uncertain significance
rs113415246	19:30,193,119	C/T	—	uncertain significance
rs112388598	19:30,193,148	C/T	—	uncertain significance
rs886054319	19:30,193,153	C/T	—	uncertain significance
rs1048104	19:30,193,182	C/G	—	uncertain significance
rs886054320	19:30,193,311	G/A	—	uncertain significance

Showing 100 of 248 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.