TBX20

T-box transcription factor 20

Summary

This gene encodes a T-box family member. The T-box family members share a common DNA binding domain, termed the T-box, and they are transcription factors involved in the regulation of developmental processes. This gene is essential for heart development. Mutations in this gene are associated with diverse cardiac pathologies, including defects in septation, valvulogenesis and cardiomyopathy. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

Known Variants464 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs483353005	7:35,241,994	A/T	—	uncertain significance
rs483353004	7:35,242,029	A/T	—	uncertain significance
rs483353000	7:35,242,030	T/A	—	uncertain significance
rs2546980816	7:35,242,052	G/A	—	uncertain significance
rs1194051605	7:35,242,054	C/G	—	likely benign
rs201217462	7:35,242,055	G/A	—	conflicting classifications of pathogenicity
rs1789317610	7:35,242,057	C/T	—	uncertain significance
rs1190702373	7:35,242,064	G/A	—	uncertain significance
rs750770210	7:35,242,065	C/G	—	uncertain significance
rs2128709386	7:35,242,067	G/T	—	uncertain significance
rs754183380	7:35,242,074	G/A	—	uncertain significance
rs375484585	7:35,242,076	C/T	—	uncertain significance
rs200704561	7:35,242,077	G/A	—	uncertain significance
rs758389235	7:35,242,078	T/C	—	likely benign
rs777607652	7:35,242,083	C/T	—	uncertain significance
rs746794468	7:35,242,084	T/C	—	likely benign
rs373392876	7:35,242,089	T/C	—	uncertain significance
rs2546980846	7:35,242,093	A/G	—	likely benign
rs1789318823	7:35,242,101	G/T	—	uncertain significance
rs1789318882	7:35,242,102	C/T	—	likely benign
rs2546980852	7:35,242,104	C/G	—	uncertain significance
rs2128709406	7:35,242,114	A/G	—	likely benign
rs2546980858	7:35,242,117	G/C	—	uncertain significance
rs1440782623	7:35,242,122	G/T	—	uncertain significance
rs745523991	7:35,242,127	C/T	—	uncertain significance
rs377570351	7:35,242,128	G/A	—	uncertain significance
rs1472539296	7:35,242,129	C/T	—	likely benign
rs949178814	7:35,242,130	G/A	—	uncertain significance
rs775097565	7:35,242,132	C/A	—	uncertain significance
rs2546980863	7:35,242,134	T/A	—	uncertain significance
rs1171656762	7:35,242,136	T/C	—	uncertain significance
rs2546980868	7:35,242,147	G/A	—	likely benign
rs534891535	7:35,242,153	G/C	—	likely benign
rs761099727	7:35,242,154	G/C	—	uncertain significance
rs2546980873	7:35,242,155	G/A	—	uncertain significance
rs1789320225	7:35,242,156	G/C	—	likely benign
rs754060530	7:35,242,159	A/G	—	likely benign
rs1288598681	7:35,242,173	A/G	—	uncertain significance
rs1789320905	7:35,242,175	C/T	—	uncertain significance
rs2546980896	7:35,242,180	A/C	—	uncertain significance
rs368803336	7:35,242,182	T/C	—	uncertain significance
rs372573377	7:35,242,183	G/A	—	likely benign
rs2546980899	7:35,242,184	G/A	—	uncertain significance
rs541075247	7:35,242,186	C/T	—	likely benign
rs375892582	7:35,242,189	T/C	—	likely benign
rs769406588	7:35,242,195	C/T	—	likely benign
rs779622893	7:35,242,196	A/G	—	uncertain significance
rs483353003	7:35,242,197	G/A	—	uncertain significance
rs748819827	7:35,242,200	G/C	—	uncertain significance
rs483352999	7:35,242,202	A/C	—	uncertain significance
rs768119874	7:35,242,211	C/G	—	uncertain significance
rs773703831	7:35,242,212	G/A	—	uncertain significance
rs2546980925	7:35,242,217	T/C	—	uncertain significance
rs771377025	7:35,242,219	T/C	—	likely benign
rs777171222	7:35,242,227	G/A	—	likely benign
rs2546980932	7:35,242,233	C/A	—	uncertain significance
rs2546980933	7:35,242,234	C/A	—	uncertain significance
rs760014915	7:35,242,243	G/A	—	likely benign
rs2546980939	7:35,242,248	G/A	—	uncertain significance
rs1236811449	7:35,242,250	A/G	—	uncertain significance
rs1789323082	7:35,242,253	G/A	—	uncertain significance
rs765471897	7:35,242,260	C/A	—	uncertain significance
rs752916726	7:35,242,262	A/G	—	uncertain significance
rs1225322188	7:35,242,266	A/T	—	uncertain significance
rs370394425	7:35,242,274	C/T	—	uncertain significance
rs483352998	7:35,242,278	T/G	—	uncertain significance
rs2546980976	7:35,242,286	G/A	—	uncertain significance
rs757208130	7:35,242,288	A/G	—	likely benign
rs1789324914	7:35,242,297	C/T	—	likely benign
rs781147575	7:35,242,298	T/A	—	uncertain significance
rs2128709457	7:35,242,299	G/A	—	uncertain significance
rs2546980984	7:35,242,300	T/C	—	likely benign
rs2546980985	7:35,242,302	G/A	—	uncertain significance
rs2128709458	7:35,242,303	G/T	—	uncertain significance
rs1171898316	7:35,242,319	A/G	—	uncertain significance
rs1373622372	7:35,242,321	A/C	—	uncertain significance
rs2128709463	7:35,242,322	C/T	—	uncertain significance
rs1457366029	7:35,242,323	T/A	—	uncertain significance
rs11978442	7:35,242,330	A/T	—	likely benign
rs1441292631	7:35,242,333	T/C	—	likely benign
rs202004153	7:35,242,336	T/C	—	likely benign
rs748900621	7:35,242,340	C/G	—	conflicting classifications of pathogenicity
rs2546981036	7:35,242,346	C/T	—	uncertain significance
rs768158277	7:35,242,350	G/C	—	uncertain significance
rs181180995	7:35,242,354	C/T	—	likely benign
rs1160063704	7:35,242,364	G/C	—	uncertain significance
rs2546981043	7:35,242,365	A/C	—	uncertain significance
rs2546981044	7:35,242,366	T/C	—	likely benign
rs112054378	7:35,242,369	T/G	—	likely benign
rs1410071356	7:35,242,374	A/C	—	uncertain significance
rs924846567	7:35,242,377	C/T	—	uncertain significance
rs544060231	7:35,242,380	A/T	—	likely benign
rs2546981048	7:35,242,382	C/A	—	uncertain significance
rs1484676351	7:35,242,385	G/A	—	uncertain significance
rs2546981050	7:35,242,386	T/C	—	likely benign
rs2546981051	7:35,242,389	G/C	—	likely benign
rs1187858416	7:35,242,390	G/C	—	likely benign
rs1422664279	7:35,242,397	A/G	—	likely benign
rs759963738	7:35,242,401	A/G	—	likely benign
rs145221432	7:35,242,644	C/G	—	likely benign

Showing 100 of 464 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.