TBX15

T-box transcription factor 15

Summary

This gene belongs to the T-box family of genes, which encode a phylogenetically conserved family of transcription factors that regulate a variety of developmental processes. All these genes contain a common T-box DNA-binding domain. Mutations in this gene are associated with Cousin syndrome.[provided by RefSeq, Oct 2009]

Known Variants183 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs17022673	1:119,427,259	G/A	—	likely benign
rs2525937773	1:119,427,363	T/G	—	uncertain significance
rs922050997	1:119,427,369	C/T	—	uncertain significance
rs375062885	1:119,427,371	G/A	—	likely benign
rs940938093	1:119,427,386	G/A	—	uncertain significance
rs769321316	1:119,427,406	C/T	—	likely benign
rs1303619512	1:119,427,421	A/G	—	likely benign
rs2525938177	1:119,427,422	G/A	—	uncertain significance
rs200564235	1:119,427,436	T/C	—	conflicting classifications of pathogenicity
rs548905715	1:119,427,443	T/C	—	uncertain significance
rs12569041	1:119,427,454	G/A	—	benign
rs61730011	1:119,427,467	A/C	missense variant	benign
rs751385809	1:119,427,481	C/T	—	likely benign
rs150366466	1:119,427,487	C/T	—	likely benign
rs1571141808	1:119,427,494	T/C	—	uncertain significance
rs2525939036	1:119,427,512	G/A	—	uncertain significance
rs1653873291	1:119,427,517	G/A	—	likely benign
rs369803958	1:119,427,541	A/C	—	likely benign
rs764058811	1:119,427,544	G/A	—	likely benign
rs2525939492	1:119,427,545	C/A	—	uncertain significance
rs373219471	1:119,427,555	C/T	—	uncertain significance
rs368845197	1:119,427,559	C/T	—	likely benign
rs754508160	1:119,427,576	C/T	—	uncertain significance
rs2101419245	1:119,427,584	C/G	—	uncertain significance
rs778474303	1:119,427,593	G/A	—	uncertain significance
rs954799505	1:119,427,611	T/C	—	uncertain significance
rs770084912	1:119,427,620	T/A	—	uncertain significance
rs200180696	1:119,427,626	T/C	—	uncertain significance
rs2525940518	1:119,427,629	T/C	—	uncertain significance
rs201782257	1:119,427,661	C/A	—	uncertain significance
rs200901909	1:119,427,676	G/A	—	likely benign
rs757802439	1:119,427,681	T/C	—	uncertain significance
rs781509317	1:119,427,684	G/T	—	uncertain significance
rs17022678	1:119,427,687	G/C	—	benign
rs780309068	1:119,427,690	A/T	—	uncertain significance
rs1181858807	1:119,427,691	T/C	—	likely benign
rs2525941709	1:119,427,729	A/G	—	uncertain significance
rs781747223	1:119,427,756	C/T	—	uncertain significance
rs750877260	1:119,427,760	C/G	—	uncertain significance
rs1302976111	1:119,427,769	G/A	—	likely benign
rs1046205058	1:119,427,771	A/G	—	uncertain significance
rs1477390723	1:119,427,774	C/T	—	uncertain significance
rs143725585	1:119,427,799	C/T	—	likely benign
rs1434425472	1:119,427,813	G/T	—	uncertain significance
rs1227935750	1:119,427,820	T/C	—	likely benign
rs1273003450	1:119,427,823	G/T	—	likely benign
rs1571142442	1:119,427,824	A/T	—	uncertain significance
rs2101422461	1:119,427,830	G/C	—	uncertain significance
rs772026219	1:119,427,832	T/C	—	likely benign
rs144291418	1:119,427,839	C/T	—	conflicting classifications of pathogenicity
rs1322919205	1:119,427,859	A/G	—	likely benign
rs2101423000	1:119,427,873	C/A	—	uncertain significance
rs1571142547	1:119,427,886	A/G	—	likely benign
rs2101423419	1:119,427,933	G/A	—	uncertain significance
rs145938710	1:119,427,937	G/A	—	benign
rs1468516763	1:119,427,944	A/G	—	uncertain significance
rs202186272	1:119,427,953	C/T	—	uncertain significance
rs1450879747	1:119,427,954	G/A	—	uncertain significance
rs755307688	1:119,427,956	G/A	—	uncertain significance
rs371191582	1:119,427,991	C/G	—	likely benign
rs368418125	1:119,428,014	C/T	—	uncertain significance
rs1571142756	1:119,428,015	A/G	—	likely benign
rs745705458	1:119,428,023	T/G	—	uncertain significance
rs1653904246	1:119,428,030	G/A	—	likely benign
rs370672766	1:119,428,037	T/G	—	uncertain significance
rs374755606	1:119,428,077	A/C	—	uncertain significance
rs754324911	1:119,428,096	T/C	—	likely benign
rs201737758	1:119,428,143	A/G	—	benign
rs1653909984	1:119,428,149	A/G	—	likely benign
rs1779423	1:119,428,176	C/G	—	benign
rs7532756	1:119,428,315	T/C	—	benign
rs77347504	1:119,428,329	T/C	—	benign
rs547285822	1:119,428,338	A/T	—	likely benign
rs41313294	1:119,428,347	C/G	—	benign
rs148731351	1:119,428,364	A/G	—	likely benign
rs140363627	1:119,441,421	T/C	—	likely benign
rs61806197	1:119,441,425	G/A	—	benign
rs145541396	1:119,441,452	A/G	—	likely benign
rs771649619	1:119,441,639	C/G	—	likely benign
rs772725669	1:119,441,648	T/C	—	uncertain significance
rs1225498534	1:119,441,681	C/T	—	uncertain significance
rs2526013598	1:119,441,691	T/C	—	likely benign
rs141002143	1:119,441,695	C/T	—	likely benign
rs762139183	1:119,441,696	G/A	—	uncertain significance
rs142267114	1:119,441,722	G/T	—	uncertain significance
rs867929526	1:119,441,732	T/C	—	uncertain significance
rs774198029	1:119,441,764	C/T	—	likely benign
rs77861216	1:119,441,997	C/T	—	benign
rs17022710	1:119,442,025	C/A	—	benign
rs61806199	1:119,450,102	C/T	intron variant	—
rs12138046	1:119,452,617	C/G	—	—
rs7519460	1:119,453,229	C/G	intron variant	—
rs1361207	1:119,456,231	G/A	intron variant	—
rs11586475	1:119,456,589	T/C	—	benign
rs773637205	1:119,456,735	T/C	—	uncertain significance
rs760957638	1:119,456,776	G/A	—	likely benign
rs376184438	1:119,456,780	C/T	—	uncertain significance
rs1655113495	1:119,456,781	G/A	—	pathogenic
rs1779451	1:119,456,940	T/A	—	likely benign
rs1779450	1:119,456,945	G/A	—	likely benign

Showing 100 of 183 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.