NFASC

neurofascin

Summary

This gene encodes an L1 family immunoglobulin cell adhesion molecule with multiple IGcam and fibronectin domains. The protein functions in neurite outgrowth, neurite fasciculation, and organization of the axon initial segment (AIS) and nodes of Ranvier on axons during early development. Both the AIS and nodes of Ranvier contain high densities of voltage-gated Na+ (Nav) channels which are clustered by interactions with cytoskeletal and scaffolding proteins including this protein, gliomedin, ankyrin 3 (ankyrin-G), and betaIV spectrin. This protein links the AIS extracellular matrix to the intracellular cytoskeleton. This gene undergoes extensive alternative splicing, and the full-length nature of some variants has not been determined.[provided by RefSeq, May 2009]

Known Variants183 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs11240290	1:204,804,141	C/A	—	—
rs191944324	1:204,808,917	G/A	intron variant	—
rs869841	1:204,812,118	G/C	regulatory region variant	—
rs180688753	1:204,837,818	C/T	regulatory region variant	—
rs2247208	1:204,877,652	G/T	—	—
rs1055679797	1:204,895,723	A/G	—	uncertain significance
rs138245659	1:204,897,274	G/A	intron variant	—
rs1308592158	1:204,908,434	C/T	—	uncertain significance
rs551045225	1:204,913,461	G/A	—	likely benign
rs763285862	1:204,913,463	C/T	—	uncertain significance
rs375852982	1:204,913,465	C/T	—	conflicting classifications of pathogenicity
rs145678100	1:204,913,510	G/A	—	uncertain significance
rs763379325	1:204,913,528	A/G	—	likely benign
rs11240317	1:204,920,322	G/C	downstream gene variant	—
rs188580609	1:204,921,186	G/A	—	uncertain significance
rs1210572128	1:204,921,243	A/G	—	uncertain significance
rs12141283	1:204,921,258	A/G	—	benign
rs375752918	1:204,923,352	C/T	—	likely benign
rs947517631	1:204,923,363	C/T	—	uncertain significance
rs139082842	1:204,923,391	G/C	synonymous variant	—
rs759862571	1:204,923,411	G/A	—	uncertain significance
rs780974163	1:204,923,425	C/A	—	uncertain significance
rs780200931	1:204,923,432	A/G	—	uncertain significance
rs2548119951	1:204,923,476	A/G	—	uncertain significance
rs770085499	1:204,923,477	C/T	—	uncertain significance
rs140357522	1:204,923,478	G/A	—	likely benign
rs948763379	1:204,923,962	C/T	—	uncertain significance
rs3795564	1:204,924,020	T/C	—	likely benign
rs77635708	1:204,924,039	G/A	—	benign
rs2548138459	1:204,924,070	A/G	—	uncertain significance
rs1197779263	1:204,926,780	A/G	—	likely benign
rs374498456	1:204,926,811	G/A	—	uncertain significance
rs368438179	1:204,926,830	C/T	—	likely benign
rs1180186788	1:204,926,869	G/A	—	uncertain significance
rs199749786	1:204,937,396	A/G	—	likely benign
rs2548378933	1:204,937,404	G/C	—	uncertain significance
rs535350909	1:204,937,427	G/A	—	uncertain significance
rs2095068291	1:204,937,448	C/T	—	uncertain significance
rs745730072	1:204,937,449	G/A	—	uncertain significance
rs866745499	1:204,937,456	G/A	—	uncertain significance
rs140997318	1:204,937,483	C/T	—	likely benign
rs2095095688	1:204,937,926	C/G	—	likely benign
rs1391793314	1:204,937,966	C/T	—	uncertain significance
rs1039171874	1:204,937,967	T/C	—	uncertain significance
rs761511719	1:204,937,985	A/C	—	uncertain significance
rs2548391703	1:204,938,009	T/A	—	uncertain significance
rs139508953	1:204,938,090	C/T	—	uncertain significance
rs201302248	1:204,938,096	C/T	—	likely benign
rs6690894	1:204,939,763	C/T	—	benign
rs767453033	1:204,939,816	G/C	—	pathogenic
rs752038065	1:204,942,440	A/G	—	uncertain significance
rs780628217	1:204,942,454	C/T	—	uncertain significance
rs1366128793	1:204,942,503	A/G	—	uncertain significance
rs61743235	1:204,942,528	C/T	—	benign
rs2595945	1:204,943,285	A/T	—	benign
rs1326022819	1:204,943,309	G/T	—	uncertain significance
rs1355187866	1:204,943,318	C/T	—	uncertain significance
rs760183549	1:204,943,328	C/T	—	uncertain significance
rs756666571	1:204,943,334	G/A	—	uncertain significance
rs147248519	1:204,943,362	T/C	—	benign
rs774424825	1:204,943,366	C/T	—	uncertain significance
rs772356783	1:204,943,367	G/A	—	uncertain significance
rs184631101	1:204,943,372	C/T	—	uncertain significance
rs758966488	1:204,943,373	G/A	—	uncertain significance
rs2095357198	1:204,943,831	G/A	—	uncertain significance
rs16854838	1:204,943,902	C/T	—	benign
rs149731085	1:204,943,936	C/T	—	conflicting classifications of pathogenicity
rs2246662	1:204,943,947	C/A	—	benign
rs1245601960	1:204,944,404	A/G	—	uncertain significance
rs184503324	1:204,944,417	G/A	—	likely benign
rs202070693	1:204,944,425	G/A	—	uncertain significance
rs371036080	1:204,944,434	G/T	—	uncertain significance
rs56223230	1:204,944,441	G/A	—	benign
rs55969362	1:204,944,454	G/A	—	benign
rs2548539307	1:204,944,513	T/A	—	uncertain significance
rs137927139	1:204,944,528	C/T	—	conflicting classifications of pathogenicity
rs55778126	1:204,944,536	A/G	—	benign
rs55726173	1:204,945,814	C/T	—	benign
rs17415240	1:204,945,871	T/C	—	benign
rs371450457	1:204,945,881	G/A	—	uncertain significance
rs568124242	1:204,945,894	A/T	—	uncertain significance
rs113197466	1:204,945,917	G/A	—	likely benign
rs6657372	1:204,945,934	A/G	—	benign
rs908890431	1:204,948,098	C/T	—	uncertain significance
rs1166932047	1:204,948,125	C/G	—	uncertain significance
rs555392324	1:204,948,131	G/A	—	conflicting classifications of pathogenicity
rs192014745	1:204,948,169	C/T	—	likely benign
rs747371432	1:204,948,182	A/G	—	uncertain significance
rs2095465738	1:204,948,198	G/A	—	uncertain significance
rs148589226	1:204,948,498	G/A	—	conflicting classifications of pathogenicity
rs2095471439	1:204,948,523	A/G	—	uncertain significance
rs779749270	1:204,948,554	C/T	—	likely benign
rs748826047	1:204,948,555	C/T	—	uncertain significance
rs771862901	1:204,948,564	G/A	—	uncertain significance
rs764323507	1:204,948,593	G/A	—	likely benign
rs6667532	1:204,948,659	A/G	—	benign
rs12084475	1:204,949,502	C/T	—	likely benign
rs149329898	1:204,949,555	A/C	—	uncertain significance
rs1558355104	1:204,950,931	G/A	—	uncertain significance
rs2095514993	1:204,950,938	A/C	—	uncertain significance

Showing 100 of 183 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.