SEMA3A

semaphorin 3A

Summary

This gene is a member of the semaphorin family and encodes a protein with an Ig-like C2-type (immunoglobulin-like) domain, a PSI domain and a Sema domain. This secreted protein can function as either a chemorepulsive agent, inhibiting axonal outgrowth, or as a chemoattractive agent, stimulating the growth of apical dendrites. In both cases, the protein is vital for normal neuronal pattern development. Increased expression of this protein is associated with schizophrenia and is seen in a variety of human tumor cell lines. Also, aberrant release of this protein is associated with the progression of Alzheimer's disease. [provided by RefSeq, Jul 2008]

Known Variants198 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs376482788	7:83,590,686	C/T	—	likely benign
rs561754532	7:83,590,717	G/A	—	likely benign
rs754608912	7:83,590,736	C/T	—	uncertain significance
rs767122031	7:83,590,746	T/G	—	uncertain significance
rs150285912	7:83,590,765	T/C	—	likely benign
rs749759577	7:83,590,773	T/C	—	uncertain significance
rs776695769	7:83,590,803	G/A	—	uncertain significance
rs318240753	7:83,590,805	C/T	—	uncertain significance
rs318240752	7:83,590,814	C/T	—	uncertain significance
rs114039303	7:83,590,843	C/T	—	likely benign
rs797821	7:83,590,852	T/C	synonymous variant	benign
rs138952094	7:83,590,853	G/A	missense variant	likely benign
rs1303697786	7:83,590,863	T/G	—	uncertain significance
rs1788471766	7:83,590,871	T/C	—	uncertain significance
rs2116248054	7:83,590,922	C/T	—	uncertain significance
rs318240751	7:83,590,941	T/C	—	uncertain significance
rs1584480308	7:83,590,957	A/G	—	likely benign
rs765770931	7:83,590,973	A/T	—	uncertain significance
rs1362282906	7:83,590,983	C/T	—	uncertain significance
rs28469467	7:83,591,009	A/T	missense variant	—
rs1404238314	7:83,591,043	G/A	—	uncertain significance
rs549486833	7:83,591,049	C/T	—	uncertain significance
rs144851761	7:83,591,050	C/T	—	likely benign
rs150205475	7:83,591,051	G/T	—	uncertain significance
rs1229736172	7:83,591,077	C/A	—	uncertain significance
rs115335242	7:83,591,080	C/G	—	likely benign
rs749954349	7:83,591,081	T/A	—	uncertain significance
rs766918295	7:83,591,093	C/T	—	uncertain significance
rs150613141	7:83,591,133	C/T	—	uncertain significance
rs10248226	7:83,592,357	G/A	—	benign
rs7809708	7:83,592,491	T/C	—	benign
rs1344080312	7:83,592,516	T/C	—	likely benign
rs140867543	7:83,592,523	C/T	—	uncertain significance
rs919402688	7:83,592,531	C/T	—	risk factor
rs144701441	7:83,592,532	G/A	—	uncertain significance
rs1022905802	7:83,592,561	T/A	—	uncertain significance
rs1381262195	7:83,592,566	C/T	—	likely benign
rs76198750	7:83,592,569	C/T	—	likely benign
rs1246910835	7:83,592,581	C/A	—	uncertain significance
rs535486545	7:83,592,582	T/A	—	uncertain significance
rs367617715	7:83,592,584	C/T	—	likely benign
rs762141269	7:83,592,603	G/A	—	uncertain significance
rs142188378	7:83,592,605	G/A	—	likely benign
rs750562959	7:83,592,616	C/G	—	uncertain significance
rs892954382	7:83,592,629	G/A	—	likely benign
rs752428221	7:83,592,637	C/T	—	uncertain significance
rs10282146	7:83,592,893	C/G	—	benign
rs747485179	7:83,606,502	G/A	—	conflicting classifications of pathogenicity
rs1167987800	7:83,606,510	C/A	—	uncertain significance
rs557001005	7:83,606,511	G/A	—	uncertain significance
rs701320	7:83,606,518	G/A	—	benign
rs996894	7:83,606,597	T/A	—	benign
rs797820	7:83,609,039	G/C	—	—
rs7789094	7:83,610,497	C/A	—	benign
rs17158435	7:83,610,540	A/G	—	benign
rs376837957	7:83,610,645	A/T	—	likely benign
rs369709964	7:83,610,666	T/C	—	uncertain significance
rs1406744026	7:83,610,673	C/G	—	uncertain significance
rs971711679	7:83,610,693	G/A	—	likely benign
rs377259138	7:83,610,721	G/A	—	uncertain significance
rs10487865	7:83,610,726	C/G	—	benign
rs771077834	7:83,610,729	G/A	—	likely benign
rs148900275	7:83,610,743	G/A	—	uncertain significance
rs1024744950	7:83,610,746	G/A	—	uncertain significance
rs1064793265	7:83,610,758	G/A	stop gained	pathogenic
rs748598600	7:83,610,772	G/A	—	uncertain significance
rs201612526	7:83,610,799	G/A	—	likely benign
rs552964434	7:83,610,807	T/A	—	uncertain significance
rs142245486	7:83,614,590	A/G	—	likely benign
rs17246251	7:83,614,620	T/G	—	benign
rs17158451	7:83,614,720	G/A	—	benign
rs1789588025	7:83,614,761	G/A	—	likely benign
rs2484785664	7:83,614,785	A/G	—	likely benign
rs77413754	7:83,614,788	C/T	—	benign
rs746014457	7:83,614,789	G/A	—	uncertain significance
rs201089771	7:83,614,808	G/A	—	likely benign
rs7808766	7:83,621,986	T/C	—	—
rs10249721	7:83,631,028	G/A	—	benign
rs137871935	7:83,631,273	G/A	—	conflicting classifications of pathogenicity
rs117178023	7:83,631,319	A/G	—	likely benign
rs144690677	7:83,631,341	A/G	—	conflicting classifications of pathogenicity
rs553661856	7:83,631,351	C/T	—	uncertain significance
rs184604091	7:83,631,352	G/A	—	likely benign
rs200724606	7:83,631,366	T/C	—	benign
rs3735513	7:83,631,376	T/C	—	benign
rs10234961	7:83,631,390	C/G	—	benign
rs113549664	7:83,631,404	C/A	—	likely benign
rs10250165	7:83,631,414	A/T	—	benign
rs3735514	7:83,631,517	T/C	—	benign
rs3735515	7:83,631,547	G/A	—	benign
rs3735516	7:83,631,588	C/T	—	benign
rs10253563	7:83,631,608	T/C	—	benign
rs10253580	7:83,631,651	T/A	—	benign
rs374742310	7:83,634,635	G/C	—	likely benign
rs138570323	7:83,634,662	G/A	—	likely benign
rs150445380	7:83,634,709	C/T	—	uncertain significance
rs147436181	7:83,634,712	T/C	—	likely benign
rs7804122	7:83,634,713	A/G	synonymous variant	benign
rs760813806	7:83,634,737	A/G	—	likely benign
rs758392343	7:83,634,752	T/C	—	uncertain significance

Showing 100 of 198 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.