MYCN

MYCN proto-oncogene, bHLH transcription factor

Summary

This gene is a member of the MYC family and encodes a protein with a basic helix-loop-helix (bHLH) domain. This protein is located in the nucleus and must dimerize with another bHLH protein in order to bind DNA. Amplification of this gene is associated with a variety of tumors, most notably neuroblastomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]

Known Variants166 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs569527205	2:16,080,769	G/T	—	conflicting classifications of pathogenicity
rs887665529	2:16,080,772	C/T	—	not provided
rs1284866728	2:16,080,805	C/A	—	uncertain significance
rs188129461	2:16,080,806	C/T	—	uncertain significance
rs1662614831	2:16,080,813	A/C	—	likely benign
rs1662616274	2:16,080,834	A/G	—	likely benign
rs1024707963	2:16,080,850	C/T	—	likely benign
rs114926520	2:16,081,944	G/A	—	likely benign
rs1553370205	2:16,082,061	C/T	—	likely benign
rs933746979	2:16,082,086	C/T	—	likely benign
rs1047169024	2:16,082,089	C/T	—	likely benign
rs981068491	2:16,082,103	G/T	—	uncertain significance
rs769956590	2:16,082,160	C/T	—	uncertain significance
rs41264197	2:16,082,170	G/C	—	likely benign
rs2103323071	2:16,082,188	T/C	—	uncertain significance
rs373683425	2:16,082,194	G/C	—	conflicting classifications of pathogenicity
rs199929021	2:16,082,204	G/A	—	likely benign
rs1395093741	2:16,082,206	C/T	—	uncertain significance
rs776147637	2:16,082,221	T/G	—	uncertain significance
rs141260022	2:16,082,255	G/T	—	likely benign
rs886041290	2:16,082,259	C/T	stop gained	pathogenic
rs1662700407	2:16,082,263	C/T	—	likely pathogenic
rs35648249	2:16,082,276	G/C	—	likely benign
rs374745691	2:16,082,297	C/A	—	conflicting classifications of pathogenicity
rs779206813	2:16,082,315	C/A	—	benign
rs1057519919	2:16,082,317	C/A	missense variant	uncertain significance
rs574496150	2:16,082,327	G/A	—	likely benign
rs2103323917	2:16,082,343	T/A	—	uncertain significance
rs2527924310	2:16,082,359	C/T	—	conflicting classifications of pathogenicity
rs2103324037	2:16,082,365	C/T	—	likely pathogenic
rs573377492	2:16,082,375	C/A	—	benign
rs2103324166	2:16,082,386	T/C	—	uncertain significance
rs41264199	2:16,082,393	G/A	—	likely benign
rs1662708273	2:16,082,401	C/T	—	uncertain significance
rs113994115	2:16,082,403	G/T	stop gained	pathogenic
rs757360369	2:16,082,407	C/G	—	uncertain significance
rs750717149	2:16,082,413	G/T	—	uncertain significance
rs121913667	2:16,082,417	G/A	stop gained	pathogenic
rs1572217314	2:16,082,442	G/T	—	pathogenic
rs769401203	2:16,082,444	G/A	—	likely benign
rs151113760	2:16,082,465	G/C	—	uncertain significance
rs2103324540	2:16,082,479	G/A	—	uncertain significance
rs767373881	2:16,082,481	C/T	—	likely benign
rs752749374	2:16,082,488	G/A	—	uncertain significance
rs761787091	2:16,082,497	G/A	—	likely benign
rs2527925394	2:16,082,499	C/T	—	uncertain significance
rs2527925602	2:16,082,533	T/C	—	uncertain significance
rs748734356	2:16,082,540	C/A	—	uncertain significance
rs1558533990	2:16,082,563	T/C	—	uncertain significance
rs1572217523	2:16,082,564	G/A	—	likely benign
rs1216742855	2:16,082,568	C/A	—	uncertain significance
rs2103324867	2:16,082,589	C/T	—	pathogenic
rs750472300	2:16,082,594	C/A	—	uncertain significance
rs2103324947	2:16,082,610	A/G	—	likely benign
rs763142340	2:16,082,612	C/G	—	uncertain significance
rs532543210	2:16,082,615	C/T	—	likely benign
rs1317627800	2:16,082,616	G/A	—	uncertain significance
rs2527926215	2:16,082,629	A/G	—	uncertain significance
rs1272894812	2:16,082,632	C/T	—	uncertain significance
rs1287680956	2:16,082,649	G/A	—	uncertain significance
rs1173527624	2:16,082,659	C/G	—	uncertain significance
rs987411324	2:16,082,675	C/A	—	likely benign
rs1267366929	2:16,082,680	C/A	—	likely benign
rs1371290338	2:16,082,686	G/A	—	uncertain significance
rs1019033224	2:16,082,695	G/C	—	uncertain significance
rs756590478	2:16,082,697	G/C	—	uncertain significance
rs1662727800	2:16,082,719	A/C	—	uncertain significance
rs1662728256	2:16,082,724	G/C	—	uncertain significance
rs775315003	2:16,082,729	C/T	—	likely benign
rs1572217825	2:16,082,735	C/T	—	likely benign
rs768583620	2:16,082,736	G/T	—	benign
rs1662730007	2:16,082,757	G/A	—	uncertain significance
rs2103325624	2:16,082,794	C/A	—	uncertain significance
rs767651526	2:16,082,798	C/T	—	likely benign
rs753047771	2:16,082,799	G/A	—	conflicting classifications of pathogenicity
rs1469113412	2:16,082,800	T/C	—	conflicting classifications of pathogenicity
rs1572217913	2:16,082,807	A/C	—	likely benign
rs1438100504	2:16,082,812	C/G	—	uncertain significance
rs1662734568	2:16,082,827	C/A	—	uncertain significance
rs1165373854	2:16,082,840	G/C	—	likely benign
rs745414155	2:16,082,844	G/T	—	conflicting classifications of pathogenicity
rs913319147	2:16,082,858	T/G	—	likely benign
rs768404232	2:16,082,867	C/T	—	likely benign
rs1662738510	2:16,082,870	A/C	—	likely benign
rs1292040252	2:16,082,871	G/A	—	uncertain significance
rs1662740143	2:16,082,890	C/G	—	uncertain significance
rs767711936	2:16,082,896	C/T	—	conflicting classifications of pathogenicity
rs775640153	2:16,082,899	G/T	—	uncertain significance
rs1397907417	2:16,082,904	G/A	—	uncertain significance
rs2103326170	2:16,082,905	G/T	—	uncertain significance
rs2527928565	2:16,082,913	C/T	—	likely pathogenic
rs2527928623	2:16,082,922	G/A	—	uncertain significance
rs779755745	2:16,082,939	C/T	—	likely benign
rs751231470	2:16,082,942	C/G	—	uncertain significance
rs569322990	2:16,082,966	G/A	—	likely benign
rs2527928850	2:16,082,968	G/A	—	uncertain significance
rs1176539851	2:16,082,969	C/T	—	likely benign
rs1558534492	2:16,082,974	C/G	—	pathogenic
rs1553370518	2:16,082,977	G/T	—	pathogenic
rs1360652641	2:16,082,992	G/A	—	uncertain significance

Showing 100 of 166 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.