SEMA3C

semaphorin 3C

Summary

This gene encodes a secreted glycoprotein that belongs to the semaphorin class 3 family of neuronal guidance cues. The encoded protein contains an N-terminal sema domain, integrin and immunoglobulin-like domains, and a C-terminal basic domain. Homodimerization and proteolytic cleavage of the C-terminal propeptide are necessary for the function of the encoded protein. It binds a neuropilin co-receptor before forming a heterotrimeric complex with an associated plexin. An increase in the expression of this gene correlates with an increase in cancer cell invasion and adhesion. Naturally occurring mutations in this gene are associated with Hirschsprung disease. [provided by RefSeq, May 2017]

Known Variants118 total

rsidPosition (GRCh37)AllelesClassClinVar
rs12536533497:80,374,201A/G—likely benign
rs1463785757:80,374,230T/C—uncertain significance
rs5526137027:80,374,250C/T—uncertain significance
rs7754404767:80,374,256T/C—uncertain significance
rs13300573327:80,374,280T/C—uncertain significance
rs5369371727:80,374,328C/T—uncertain significance
rs19499717:80,374,342A/G—benign
rs1496501687:80,374,345T/C—likely benign
rs17877688147:80,374,380C/T—uncertain significance
rs3764257427:80,374,401G/T—uncertain significance
rs19499727:80,374,438T/C—benign
rs1487902477:80,374,451T/C—conflicting classifications of pathogenicity
rs3702254177:80,374,453C/T—likely benign
rs1474542887:80,374,528T/C—likely benign
rs767344647:80,374,532G/C—benign
rs10081788157:80,374,536T/C—uncertain significance
rs7573818557:80,374,571G/A—uncertain significance
rs7809771497:80,374,581G/C—uncertain significance
rs10240826987:80,378,217T/C—likely benign
rs359745687:80,378,225T/C—uncertain significance
rs2002706127:80,378,250C/T—likely benign
rs340201757:80,378,255T/C—benign
rs7733734417:80,378,261C/A—uncertain significance
rs1435404357:80,378,265C/T—benign
rs1499234627:80,378,294T/C—uncertain significance
rs9434472537:80,378,307T/C—likely benign
rs22723517:80,378,319G/C—benign
rs1491015647:80,378,322A/T—likely benign
rs2012287497:80,378,343T/A—likely benign
rs7608341367:80,380,582T/A—uncertain significance
rs1385261297:80,380,645G/T—likely benign
rs13391536537:80,387,691G/A—likely benign
rs1453323317:80,387,694G/A—likely benign
rs1479990487:80,387,709C/T—likely benign
rs3757015177:80,387,734G/A—uncertain significance
rs7800717147:80,387,752C/T—uncertain significance
rs7777308327:80,387,757C/A—likely benign
rs10584257:80,387,766C/T—benign
rs7591966087:80,387,776C/A—uncertain significance
rs1389703707:80,390,966G/C—uncertain significance
rs10267358417:80,390,969T/C—uncertain significance
rs3756084727:80,394,496A/G—uncertain significance
rs7747003887:80,394,509T/C—uncertain significance
rs9176704327:80,394,527G/C—uncertain significance
rs25360460337:80,394,542T/C—uncertain significance
rs14567838617:80,394,553C/T—uncertain significance
rs9854046627:80,394,559T/C—uncertain significance
rs119807847:80,395,728T/Aintron variant—
rs3728314057:80,418,613A/T—benign
rs3677593007:80,418,628C/T—uncertain significance
rs7704760417:80,418,629G/A—likely benign
rs7770403947:80,418,679C/T—uncertain significance
rs1453314807:80,418,686T/C—likely benign
rs172759867:80,418,689A/G—benign
rs1487309427:80,418,712G/A—uncertain significance
rs25360805487:80,418,721A/T—uncertain significance
rs7493884537:80,418,730T/C—uncertain significance
rs5715943977:80,418,736T/C—uncertain significance
rs7526826297:80,418,767G/A—likely benign
rs25360809627:80,418,844A/G—uncertain significance
rs1458375047:80,422,486T/Cintron variant—
rs1416932557:80,427,426T/C—benign
rs1509816337:80,427,443A/G—uncertain significance
rs1409078117:80,427,465C/A—likely benign
rs18809597:80,427,495C/A—benign
rs7574752717:80,427,505A/G—uncertain significance
rs15274827:80,427,530C/T—benign
rs1997389917:80,430,074T/C—uncertain significance
rs1402445517:80,430,097A/G—likely benign
rs7716528417:80,430,111C/T—likely benign
rs7772351237:80,430,116T/C—uncertain significance
rs9317446087:80,430,120A/C—likely benign
rs9069618577:80,431,989T/C—uncertain significance
rs7735957457:80,431,991A/G—likely benign
rs1452130927:80,432,009G/A—likely benign
rs7572676347:80,432,024C/T—likely benign
rs7486119017:80,432,064T/C—uncertain significance
rs12096943167:80,433,415T/A—likely benign
rs3690764697:80,433,458C/T—likely benign
rs3732253767:80,433,459G/A—uncertain significance
rs1433656877:80,433,462C/T—uncertain significance
rs10380665647:80,433,464C/A—uncertain significance
rs24841176087:80,433,471T/C—uncertain significance
rs1385226397:80,433,535G/A—conflicting classifications of pathogenicity
rs7758409147:80,433,553C/T—conflicting classifications of pathogenicity
rs7698294747:80,434,993G/A—uncertain significance
rs12569947367:80,435,058A/G—likely benign
rs3760864167:80,435,082A/G—likely benign
rs7529006317:80,439,943C/T—likely benign
rs5292433427:80,439,951C/T—uncertain significance
rs7470088467:80,439,959T/C—uncertain significance
rs1466710637:80,439,972G/A—likely benign
rs1398201667:80,447,621T/C—likely benign
rs7645012527:80,447,666A/G—likely benign
rs7809828827:80,447,703T/C—uncertain significance
rs3771491957:80,447,713G/A—uncertain significance
rs769938857:80,447,732G/A—likely benign
rs7474633707:80,456,731T/C—likely benign
rs15839161697:80,456,732A/C—likely benign
rs11998575157:80,456,734C/A—likely benign

Showing 100 of 118 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.