SOX5

SRY-box transcription factor 5

Summary

This gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The encoded protein may play a role in chondrogenesis. A pseudogene of this gene is located on chromosome 8. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

Known Variants213 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1555121055	12:23,687,153	T/C	—	uncertain significance
rs2547717161	12:23,687,162	T/G	—	uncertain significance
rs769351289	12:23,687,193	C/A	—	uncertain significance
rs1244483195	12:23,687,224	C/T	—	uncertain significance
rs144757257	12:23,687,228	G/A	—	likely benign
rs1321231210	12:23,687,296	C/T	—	uncertain significance
rs748104544	12:23,687,311	T/C	—	likely benign
rs772080395	12:23,687,318	G/C	—	likely benign
rs141628352	12:23,687,353	C/T	—	conflicting classifications of pathogenicity
rs138876515	12:23,687,366	C/T	—	benign
rs1463087817	12:23,687,367	G/A	—	uncertain significance
rs141581669	12:23,687,417	C/T	—	likely benign
rs2135892447	12:23,689,398	G/T	—	conflicting classifications of pathogenicity
rs2135892497	12:23,689,400	A/T	—	uncertain significance
rs2547739913	12:23,689,418	G/A	—	uncertain significance
rs752362418	12:23,689,446	A/C	—	likely benign
rs2547740424	12:23,689,462	T/C	—	uncertain significance
rs1135401816	12:23,689,480	G/T	—	likely pathogenic
rs1591833159	12:23,689,507	T/C	—	pathogenic
rs2547740910	12:23,689,508	A/G	—	likely pathogenic
rs2547740929	12:23,689,511	C/T	—	uncertain significance
rs1341736288	12:23,689,519	T/C	—	uncertain significance
rs769452777	12:23,689,527	G/C	—	uncertain significance
rs869312867	12:23,689,544	G/C	missense variant	pathogenic
rs1591833497	12:23,689,556	C/A	—	pathogenic
rs1591833522	12:23,689,561	T/C	—	pathogenic
rs2135894892	12:23,689,568	G/A	—	pathogenic
rs2135895171	12:23,689,574	C/T	—	uncertain significance
rs2547741754	12:23,689,578	G/C	—	uncertain significance
rs1940534444	12:23,689,586	T/C	—	likely pathogenic
rs1591833842	12:23,689,593	C/T	—	pathogenic
rs1940536576	12:23,689,597	C/T	—	uncertain significance
rs192384649	12:23,689,616	G/A	—	uncertain significance
rs7485662	12:23,696,116	T/C	—	benign
rs1565669269	12:23,696,152	C/G	—	likely pathogenic
rs2547812570	12:23,696,156	C/G	—	uncertain significance
rs1942462618	12:23,696,157	T/A	—	likely pathogenic
rs2136020785	12:23,696,167	G/A	—	likely benign
rs2136020836	12:23,696,168	T/C	—	pathogenic
rs773832380	12:23,696,204	C/T	—	pathogenic
rs1565669640	12:23,696,205	G/A	—	pathogenic
rs2547813133	12:23,696,219	C/T	—	pathogenic
rs2547813154	12:23,696,222	A/T	—	likely pathogenic
rs1591908568	12:23,696,235	T/G	—	likely pathogenic
rs1591908609	12:23,696,238	T/C	—	conflicting classifications of pathogenicity
rs2547813256	12:23,696,240	G/A	—	pathogenic
rs2547813307	12:23,696,243	C/T	—	pathogenic
rs1591908680	12:23,696,244	G/A	—	pathogenic
rs1942475523	12:23,696,277	G/A	—	pathogenic
rs1942477045	12:23,696,288	T/C	—	likely benign
rs1591909421	12:23,696,303	G/C	—	pathogenic
rs1555141265	12:23,699,248	A/T	—	pathogenic
rs2547838863	12:23,699,251	A/C	—	uncertain significance
rs2547839009	12:23,699,261	C/G	—	uncertain significance
rs2136074938	12:23,699,264	C/T	—	uncertain significance
rs2136075793	12:23,699,360	T/C	—	pathogenic
rs2547839919	12:23,699,365	A/C	—	uncertain significance
rs895607185	12:23,716,203	G/A	—	pathogenic
rs777620138	12:23,716,223	C/T	—	uncertain significance
rs781407501	12:23,716,232	A/G	—	uncertain significance
rs2547996158	12:23,716,247	T/A	—	uncertain significance
rs2547996437	12:23,716,265	C/T	—	uncertain significance
rs1592099852	12:23,716,269	G/A	—	pathogenic
rs1946541229	12:23,716,307	T/C	—	uncertain significance
rs904201285	12:23,716,323	G/A	—	uncertain significance
rs1946546111	12:23,716,334	T/C	—	likely benign
rs1947477250	12:23,721,070	G/A	—	uncertain significance
rs779353540	12:23,728,597	A/G	—	uncertain significance
rs780771208	12:23,728,629	C/T	—	likely benign
rs2548149160	12:23,728,634	C/A	—	uncertain significance
rs920949241	12:23,728,645	G/A	—	uncertain significance
rs780885506	12:23,728,657	C/A	—	uncertain significance
rs373260333	12:23,728,699	G/A	—	likely benign
rs2548150298	12:23,728,702	G/A	—	uncertain significance
rs1565958110	12:23,728,711	G/T	—	uncertain significance
rs79989573	12:23,737,481	A/G	—	benign
rs11046992	12:23,737,566	G/T	—	—
rs201369586	12:23,757,315	G/A	—	likely benign
rs2074971229	12:23,757,319	A/C	—	pathogenic
rs371364235	12:23,757,356	C/T	—	uncertain significance
rs762061008	12:23,757,378	T/C	—	likely benign
rs1180406066	12:23,757,380	C/T	—	uncertain significance
rs754590341	12:23,757,410	C/T	—	uncertain significance
rs869025321	12:23,757,425	C/A	stop gained	pathogenic
rs1566239985	12:23,757,435	C/G	—	uncertain significance
rs2138723102	12:23,793,746	C/T	—	uncertain significance
rs1224542564	12:23,793,775	T/C	—	uncertain significance
rs762621219	12:23,793,781	C/T	—	uncertain significance
rs757148177	12:23,793,784	C/T	—	likely benign
rs2548853948	12:23,793,793	C/T	—	uncertain significance
rs749497533	12:23,793,825	G/A	—	uncertain significance
rs2138726408	12:23,793,832	C/G	—	pathogenic
rs2548855120	12:23,793,833	T/G	—	likely pathogenic
rs998320959	12:23,818,377	C/G	—	pathogenic
rs1593089328	12:23,818,381	A/T	—	uncertain significance
rs778494618	12:23,818,395	C/T	—	uncertain significance
rs2083643368	12:23,818,396	T/C	—	uncertain significance
rs1057518928	12:23,818,405	G/A	missense variant	pathogenic
rs2549117925	12:23,818,417	A/G	—	uncertain significance
rs201164077	12:23,818,435	C/A	—	uncertain significance

Showing 100 of 213 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.