SPECC1L

sperm antigen with calponin homology and coiled-coil domains 1 like

Summary

This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a cause of oblique facial clefting-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A read-through transcript composed of SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and the downstream ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013]

Known Variants255 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs4822480	22:24,666,237	A/G	upstream gene variant	—
rs5760309	22:24,677,831	G/T	intron variant	—
rs117524260	22:24,678,545	G/A	intron variant	—
rs191361412	22:24,678,935	G/A	intron variant	—
rs529352225	22:24,679,646	C/T	—	—
rs141762523	22:24,688,663	A/G	regulatory region variant	—
rs118106991	22:24,695,238	A/T	intron variant	—
rs6004124	22:24,697,757	G/A	intron variant	—
rs545888691	22:24,698,029	T/A	—	benign
rs199934096	22:24,698,155	T/C	—	likely benign
rs770718144	22:24,698,225	G/C	—	uncertain significance
rs1268065197	22:24,698,240	T/C	—	uncertain significance
rs202073203	22:24,698,244	T/C	—	likely benign
rs144546045	22:24,698,258	C/T	—	likely benign
rs761899009	22:24,698,259	G/T	—	likely benign
rs1556181412	22:24,698,286	A/T	—	uncertain significance
rs755473465	22:24,698,305	A/G	—	uncertain significance
rs777320040	22:24,698,330	G/A	—	uncertain significance
rs2517609406	22:24,698,351	A/G	—	uncertain significance
rs143374533	22:24,698,357	T/G	—	likely benign
rs188930206	22:24,707,967	C/T	—	likely benign
rs1034053284	22:24,708,029	C/T	—	uncertain significance
rs2517628174	22:24,708,043	C/T	—	uncertain significance
rs199578950	22:24,709,263	A/G	—	likely benign
rs1420729984	22:24,709,282	C/G	—	uncertain significance
rs1239035558	22:24,709,291	G/T	—	uncertain significance
rs200878965	22:24,709,328	G/A	—	likely benign
rs747253444	22:24,709,341	G/A	—	uncertain significance
rs2517631012	22:24,709,357	G/A	—	uncertain significance
rs771156562	22:24,709,360	C/T	—	uncertain significance
rs201347077	22:24,709,367	A/G	—	likely benign
rs775908018	22:24,709,386	T/A	—	uncertain significance
rs147849517	22:24,709,406	C/T	—	likely benign
rs35783914	22:24,709,420	C/T	—	conflicting classifications of pathogenicity
rs201577668	22:24,709,440	G/A	—	uncertain significance
rs540906759	22:24,709,683	C/T	—	—
rs573979206	22:24,712,801	C/T	—	—
rs62233115	22:24,713,141	T/G	—	—
rs140178777	22:24,717,258	A/G	—	likely benign
rs1487018156	22:24,717,274	A/G	—	uncertain significance
rs202112942	22:24,717,277	G/A	—	likely benign
rs768857920	22:24,717,279	A/C	—	uncertain significance
rs201527235	22:24,717,299	A/G	—	likely benign
rs575022840	22:24,717,310	C/T	—	conflicting classifications of pathogenicity
rs1300800185	22:24,717,315	A/G	—	uncertain significance
rs1224334280	22:24,717,321	A/G	—	uncertain significance
rs201882878	22:24,717,341	A/T	—	likely benign
rs2040720804	22:24,717,375	C/T	—	uncertain significance
rs148203655	22:24,717,411	C/T	—	benign
rs193920978	22:24,717,412	G/T	—	uncertain significance
rs201337978	22:24,717,418	G/A	—	likely benign
rs145183243	22:24,717,437	C/T	—	likely benign
rs200866362	22:24,717,438	G/A	—	likely benign
rs547014400	22:24,717,442	G/A	—	conflicting classifications of pathogenicity
rs199673620	22:24,717,444	A/G	—	likely benign
rs200634676	22:24,717,456	A/G	—	uncertain significance
rs200994521	22:24,717,462	G/A	—	uncertain significance
rs529314817	22:24,717,487	C/G	—	uncertain significance
rs778445800	22:24,717,499	A/C	—	uncertain significance
rs2517650662	22:24,717,502	T/A	—	uncertain significance
rs56168869	22:24,717,510	C/T	—	likely benign
rs142144652	22:24,717,517	C/T	—	likely benign
rs3747113	22:24,717,518	G/A	—	benign
rs2517650727	22:24,717,526	A/G	—	uncertain significance
rs769342341	22:24,717,536	C/T	—	likely benign
rs56112030	22:24,717,548	A/T	—	benign
rs200206900	22:24,717,574	T/C	—	uncertain significance
rs201626909	22:24,717,577	G/A	—	conflicting classifications of pathogenicity
rs199651716	22:24,717,590	C/T	—	likely benign
rs757691235	22:24,717,612	G/A	—	conflicting classifications of pathogenicity
rs1054188006	22:24,717,613	G/A	—	uncertain significance
rs144274848	22:24,717,619	A/G	—	likely benign
rs117220882	22:24,717,637	C/T	—	benign
rs201958693	22:24,717,642	A/G	—	likely benign
rs2040726432	22:24,717,646	C/T	—	uncertain significance
rs201633393	22:24,717,655	C/T	—	likely benign
rs2517651128	22:24,717,671	C/T	—	likely benign
rs200474506	22:24,717,674	T/C	—	likely benign
rs2040728349	22:24,717,784	A/G	—	uncertain significance
rs199858278	22:24,717,815	T/G	—	conflicting classifications of pathogenicity
rs200014648	22:24,717,820	A/G	—	benign
rs2517651500	22:24,717,823	A/G	—	uncertain significance
rs144609692	22:24,717,835	C/T	—	likely benign
rs146907080	22:24,717,843	A/G	—	likely benign
rs2146478907	22:24,717,852	A/C	—	likely benign
rs2040730204	22:24,717,861	G/A	—	uncertain significance
rs201628819	22:24,717,944	A/G	—	likely benign
rs754533880	22:24,717,972	A/G	—	uncertain significance
rs180674130	22:24,717,974	G/A	—	uncertain significance
rs200018524	22:24,717,979	A/C	—	uncertain significance
rs145257997	22:24,717,987	A/T	—	uncertain significance
rs2517652031	22:24,717,993	T/C	—	uncertain significance
rs2517652091	22:24,718,009	A/G	—	uncertain significance
rs1264665479	22:24,718,051	C/T	—	likely benign
rs2040733644	22:24,718,052	C/T	—	likely benign
rs201943531	22:24,718,077	A/G	—	uncertain significance
rs1018962862	22:24,718,084	G/A	—	uncertain significance
rs200327822	22:24,718,090	G/A	—	likely benign
rs115222940	22:24,718,096	G/C	—	uncertain significance
rs113210669	22:24,718,097	G/T	—	likely benign

Showing 100 of 255 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.