IGF1

insulin like growth factor 1

Summary

The protein encoded by this gene is similar to insulin in function and structure and is a member of a family of proteins involved in mediating growth and development. The encoded protein is processed from a precursor, bound by a specific receptor, and secreted. Defects in this gene are a cause of insulin-like growth factor I deficiency. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar processing to generate mature protein. [provided by RefSeq, Sep 2015]

Known Variants181 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs537246408	12:102,789,663	T/C	—	uncertain significance
rs886048855	12:102,789,687	A/G	—	uncertain significance
rs1873142530	12:102,789,702	T/C	—	uncertain significance
rs5742714	12:102,789,852	C/G	3 prime UTR variant	benign
rs6222	12:102,789,901	G/A	—	benign
rs6215	12:102,789,974	A/G	—	benign
rs886048857	12:102,790,042	T/A	—	uncertain significance
rs886048858	12:102,790,058	C/G	—	uncertain significance
rs886048859	12:102,790,104	A/G	—	uncertain significance
rs886048860	12:102,790,166	C/T	—	uncertain significance
rs6219	12:102,790,192	T/C	—	benign
rs1873197038	12:102,790,294	G/A	—	uncertain significance
rs1873201815	12:102,790,355	T/A	—	uncertain significance
rs886048861	12:102,790,441	T/G	—	uncertain significance
rs1873229660	12:102,790,615	G/A	—	uncertain significance
rs546707849	12:102,790,747	G/A	—	uncertain significance
rs566519887	12:102,790,752	G/A	—	uncertain significance
rs1140655	12:102,790,780	T/A	—	benign
rs569070910	12:102,790,836	C/T	—	uncertain significance
rs886048862	12:102,790,953	C/A	—	uncertain significance
rs554492318	12:102,790,996	A/T	—	uncertain significance
rs6221	12:102,791,015	A/C	—	benign
rs5742711	12:102,791,083	A/C	—	benign
rs886048863	12:102,791,098	T/C	—	uncertain significance
rs187947737	12:102,791,121	G/A	—	uncertain significance
rs886048864	12:102,791,206	A/G	—	uncertain significance
rs886048865	12:102,791,305	A/G	—	uncertain significance
rs886048866	12:102,791,345	G/T	—	uncertain significance
rs5742709	12:102,791,527	C/G	—	uncertain significance
rs70961706	12:102,791,546	G/A	—	likely benign
rs886048867	12:102,791,586	G/C	—	uncertain significance
rs886048868	12:102,791,616	C/A	—	uncertain significance
rs184498533	12:102,791,745	G/A	—	uncertain significance
rs3730205	12:102,791,749	A/G	—	benign
rs886048869	12:102,791,760	G/A	—	uncertain significance
rs1282576962	12:102,791,766	A/T	—	uncertain significance
rs944640444	12:102,791,797	A/T	—	uncertain significance
rs886048871	12:102,791,872	A/C	—	uncertain significance
rs553956843	12:102,791,874	A/C	—	likely benign
rs5742708	12:102,791,875	A/C	—	likely benign
rs911177655	12:102,791,876	A/C	—	uncertain significance
rs201936984	12:102,791,881	C/A	—	uncertain significance
rs886048873	12:102,791,917	G/A	—	uncertain significance
rs17884961	12:102,792,178	A/G	—	likely benign
rs5742707	12:102,792,276	C/T	—	benign
rs58690284	12:102,792,277	G/A	—	likely benign
rs187778551	12:102,792,278	C/T	—	uncertain significance
rs3730192	12:102,792,314	C/T	—	benign
rs886048874	12:102,792,352	C/G	—	uncertain significance
rs547838899	12:102,792,362	A/G	—	uncertain significance
rs886048875	12:102,792,370	T/C	—	uncertain significance
rs534164209	12:102,792,395	C/T	—	uncertain significance
rs998117861	12:102,792,485	C/T	—	uncertain significance
rs1063599	12:102,792,569	C/A	—	uncertain significance
rs886048877	12:102,792,670	A/C	—	uncertain significance
rs117058953	12:102,792,733	G/A	—	benign
rs5742705	12:102,792,897	G/A	—	benign
rs551668715	12:102,792,919	G/C	—	uncertain significance
rs55973581	12:102,792,925	C/G	—	uncertain significance
rs55650342	12:102,793,059	G/C	—	benign
rs578217606	12:102,793,095	T/C	—	uncertain significance
rs1873506951	12:102,793,317	G/T	—	uncertain significance
rs921344799	12:102,793,377	A/G	—	uncertain significance
rs574537538	12:102,793,458	G/A	—	uncertain significance
rs543153089	12:102,793,465	T/C	—	uncertain significance
rs6214	12:102,793,569	C/T	3 prime UTR variant	benign
rs6218	12:102,793,633	A/G	3 prime UTR variant	benign
rs6217	12:102,793,786	A/C	—	benign
rs5742704	12:102,793,921	T/C	—	benign
rs886048884	12:102,793,923	T/C	—	uncertain significance
rs6216	12:102,794,019	A/G	—	likely benign
rs545700518	12:102,794,044	G/A	—	uncertain significance
rs140864343	12:102,794,073	C/T	—	uncertain significance
rs771430306	12:102,794,088	T/C	—	uncertain significance
rs886048885	12:102,794,090	C/T	—	uncertain significance
rs1050059471	12:102,794,238	G/A	—	uncertain significance
rs746438140	12:102,794,279	G/A	—	uncertain significance
rs564272997	12:102,794,345	A/G	—	uncertain significance
rs144679734	12:102,794,436	C/T	—	uncertain significance
rs6220	12:102,794,515	G/A	3 prime UTR variant	benign
rs5742703	12:102,794,532	G/T	—	likely benign
rs6212	12:102,794,561	G/A	—	uncertain significance
rs3730201	12:102,794,567	A/C	—	uncertain significance
rs1873625347	12:102,794,642	C/T	—	uncertain significance
rs1270063827	12:102,794,796	A/G	—	uncertain significance
rs141739269	12:102,794,887	G/A	—	uncertain significance
rs886048886	12:102,794,899	C/T	—	uncertain significance
rs886048887	12:102,794,931	T/C	—	uncertain significance
rs765196070	12:102,794,966	T/C	—	uncertain significance
rs963411890	12:102,795,081	G/A	—	uncertain significance
rs79306998	12:102,795,128	C/A	—	uncertain significance
rs1167466973	12:102,795,231	C/G	—	uncertain significance
rs886048888	12:102,795,252	T/C	—	uncertain significance
rs866680462	12:102,795,331	C/T	—	uncertain significance
rs5742701	12:102,795,501	T/G	—	likely benign
rs1301753799	12:102,795,505	C/T	—	uncertain significance
rs3730204	12:102,795,514	A/G	—	benign
rs546755830	12:102,795,563	C/A	—	likely benign
rs534391324	12:102,795,623	G/T	—	uncertain significance
rs904413261	12:102,795,735	G/A	—	uncertain significance

Showing 100 of 181 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.