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

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1253653349	7:80,374,201	A/G	—	likely benign
rs146378575	7:80,374,230	T/C	—	uncertain significance
rs552613702	7:80,374,250	C/T	—	uncertain significance
rs775440476	7:80,374,256	T/C	—	uncertain significance
rs1330057332	7:80,374,280	T/C	—	uncertain significance
rs536937172	7:80,374,328	C/T	—	uncertain significance
rs1949971	7:80,374,342	A/G	—	benign
rs149650168	7:80,374,345	T/C	—	likely benign
rs1787768814	7:80,374,380	C/T	—	uncertain significance
rs376425742	7:80,374,401	G/T	—	uncertain significance
rs1949972	7:80,374,438	T/C	—	benign
rs148790247	7:80,374,451	T/C	—	conflicting classifications of pathogenicity
rs370225417	7:80,374,453	C/T	—	likely benign
rs147454288	7:80,374,528	T/C	—	likely benign
rs76734464	7:80,374,532	G/C	—	benign
rs1008178815	7:80,374,536	T/C	—	uncertain significance
rs757381855	7:80,374,571	G/A	—	uncertain significance
rs780977149	7:80,374,581	G/C	—	uncertain significance
rs1024082698	7:80,378,217	T/C	—	likely benign
rs35974568	7:80,378,225	T/C	—	uncertain significance
rs200270612	7:80,378,250	C/T	—	likely benign
rs34020175	7:80,378,255	T/C	—	benign
rs773373441	7:80,378,261	C/A	—	uncertain significance
rs143540435	7:80,378,265	C/T	—	benign
rs149923462	7:80,378,294	T/C	—	uncertain significance
rs943447253	7:80,378,307	T/C	—	likely benign
rs2272351	7:80,378,319	G/C	—	benign
rs149101564	7:80,378,322	A/T	—	likely benign
rs201228749	7:80,378,343	T/A	—	likely benign
rs760834136	7:80,380,582	T/A	—	uncertain significance
rs138526129	7:80,380,645	G/T	—	likely benign
rs1339153653	7:80,387,691	G/A	—	likely benign
rs145332331	7:80,387,694	G/A	—	likely benign
rs147999048	7:80,387,709	C/T	—	likely benign
rs375701517	7:80,387,734	G/A	—	uncertain significance
rs780071714	7:80,387,752	C/T	—	uncertain significance
rs777730832	7:80,387,757	C/A	—	likely benign
rs1058425	7:80,387,766	C/T	—	benign
rs759196608	7:80,387,776	C/A	—	uncertain significance
rs138970370	7:80,390,966	G/C	—	uncertain significance
rs1026735841	7:80,390,969	T/C	—	uncertain significance
rs375608472	7:80,394,496	A/G	—	uncertain significance
rs774700388	7:80,394,509	T/C	—	uncertain significance
rs917670432	7:80,394,527	G/C	—	uncertain significance
rs2536046033	7:80,394,542	T/C	—	uncertain significance
rs1456783861	7:80,394,553	C/T	—	uncertain significance
rs985404662	7:80,394,559	T/C	—	uncertain significance
rs11980784	7:80,395,728	T/A	intron variant	—
rs372831405	7:80,418,613	A/T	—	benign
rs367759300	7:80,418,628	C/T	—	uncertain significance
rs770476041	7:80,418,629	G/A	—	likely benign
rs777040394	7:80,418,679	C/T	—	uncertain significance
rs145331480	7:80,418,686	T/C	—	likely benign
rs17275986	7:80,418,689	A/G	—	benign
rs148730942	7:80,418,712	G/A	—	uncertain significance
rs2536080548	7:80,418,721	A/T	—	uncertain significance
rs749388453	7:80,418,730	T/C	—	uncertain significance
rs571594397	7:80,418,736	T/C	—	uncertain significance
rs752682629	7:80,418,767	G/A	—	likely benign
rs2536080962	7:80,418,844	A/G	—	uncertain significance
rs145837504	7:80,422,486	T/C	intron variant	—
rs141693255	7:80,427,426	T/C	—	benign
rs150981633	7:80,427,443	A/G	—	uncertain significance
rs140907811	7:80,427,465	C/A	—	likely benign
rs1880959	7:80,427,495	C/A	—	benign
rs757475271	7:80,427,505	A/G	—	uncertain significance
rs1527482	7:80,427,530	C/T	—	benign
rs199738991	7:80,430,074	T/C	—	uncertain significance
rs140244551	7:80,430,097	A/G	—	likely benign
rs771652841	7:80,430,111	C/T	—	likely benign
rs777235123	7:80,430,116	T/C	—	uncertain significance
rs931744608	7:80,430,120	A/C	—	likely benign
rs906961857	7:80,431,989	T/C	—	uncertain significance
rs773595745	7:80,431,991	A/G	—	likely benign
rs145213092	7:80,432,009	G/A	—	likely benign
rs757267634	7:80,432,024	C/T	—	likely benign
rs748611901	7:80,432,064	T/C	—	uncertain significance
rs1209694316	7:80,433,415	T/A	—	likely benign
rs369076469	7:80,433,458	C/T	—	likely benign
rs373225376	7:80,433,459	G/A	—	uncertain significance
rs143365687	7:80,433,462	C/T	—	uncertain significance
rs1038066564	7:80,433,464	C/A	—	uncertain significance
rs2484117608	7:80,433,471	T/C	—	uncertain significance
rs138522639	7:80,433,535	G/A	—	conflicting classifications of pathogenicity
rs775840914	7:80,433,553	C/T	—	conflicting classifications of pathogenicity
rs769829474	7:80,434,993	G/A	—	uncertain significance
rs1256994736	7:80,435,058	A/G	—	likely benign
rs376086416	7:80,435,082	A/G	—	likely benign
rs752900631	7:80,439,943	C/T	—	likely benign
rs529243342	7:80,439,951	C/T	—	uncertain significance
rs747008846	7:80,439,959	T/C	—	uncertain significance
rs146671063	7:80,439,972	G/A	—	likely benign
rs139820166	7:80,447,621	T/C	—	likely benign
rs764501252	7:80,447,666	A/G	—	likely benign
rs780982882	7:80,447,703	T/C	—	uncertain significance
rs377149195	7:80,447,713	G/A	—	uncertain significance
rs76993885	7:80,447,732	G/A	—	likely benign
rs747463370	7:80,456,731	T/C	—	likely benign
rs1583916169	7:80,456,732	A/C	—	likely benign
rs1199857515	7:80,456,734	C/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.