TBX19

T-box transcription factor 19

Summary

This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations in this gene were found in patients with isolated deficiency of pituitary POMC-derived ACTH, suggesting an essential role for this gene in differentiation of the pituitary POMC lineage. ACTH deficiency is characterized by adrenal insufficiency symptoms such as weight loss, lack of appetite (anorexia), weakness, nausea, vomiting, and low blood pressure. [provided by RefSeq, Jul 2008]

Known Variants132 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs187423054	1:168,250,308	G/A	—	benign
rs367613004	1:168,250,326	C/T	—	likely benign
rs1446192015	1:168,250,349	C/A	—	likely benign
rs886045508	1:168,250,367	T/G	—	uncertain significance
rs149094298	1:168,250,390	A/G	—	uncertain significance
rs528606805	1:168,250,406	G/A	—	benign
rs2525801139	1:168,250,423	A/C	—	uncertain significance
rs2102348719	1:168,250,428	G/C	—	uncertain significance
rs34284181	1:168,250,433	C/T	—	benign
rs886045509	1:168,250,522	A/G	—	uncertain significance
rs776782854	1:168,250,551	C/T	—	likely benign
rs200043223	1:168,260,395	T/C	—	conflicting classifications of pathogenicity
rs1310982370	1:168,260,400	G/A	—	likely pathogenic
rs1558190316	1:168,260,404	G/T	—	uncertain significance
rs776710499	1:168,260,420	A/T	—	uncertain significance
rs74315378	1:168,260,451	T/G	missense variant	pathogenic
rs376338008	1:168,260,455	C/T	—	likely benign
rs748529264	1:168,260,484	A/G	—	uncertain significance
rs369516206	1:168,260,492	C/T	—	uncertain significance
rs747441579	1:168,260,503	C/T	—	likely benign
rs762183325	1:168,260,504	G/A	—	uncertain significance
rs143801899	1:168,260,509	C/T	—	conflicting classifications of pathogenicity
rs775314646	1:168,260,553	G/A	—	uncertain significance
rs112910251	1:168,260,563	C/T	—	benign
rs753455443	1:168,260,571	C/T	—	pathogenic
rs74315377	1:168,260,577	C/T	missense variant	pathogenic
rs372115950	1:168,260,583	A/G	—	uncertain significance
rs1648935336	1:168,260,597	T/C	—	uncertain significance
rs756353479	1:168,260,649	A/G	—	uncertain significance
rs34342577	1:168,260,656	C/T	—	benign
rs111697318	1:168,260,675	C/T	—	benign
rs1558190989	1:168,262,390	G/C	—	uncertain significance
rs1205523992	1:168,262,433	G/T	—	uncertain significance
rs1648991442	1:168,262,437	G/T	—	uncertain significance
rs200197424	1:168,262,448	C/T	stop gained	pathogenic
rs139968594	1:168,262,449	G/A	—	uncertain significance
rs1159356681	1:168,262,475	G/A	—	uncertain significance
rs2525826407	1:168,262,480	C/G	—	likely benign
rs1553289042	1:168,262,481	C/T	—	pathogenic
rs376849434	1:168,262,492	C/T	—	likely benign
rs773696820	1:168,262,493	G/A	—	uncertain significance
rs143377172	1:168,262,510	T/C	—	conflicting classifications of pathogenicity
rs12096093	1:168,262,527	T/G	—	benign
rs762160668	1:168,262,529	G/T	—	conflicting classifications of pathogenicity
rs886045513	1:168,262,531	G/T	—	conflicting classifications of pathogenicity
rs765417131	1:168,262,533	G/T	—	likely benign
rs998753409	1:168,262,535	G/T	—	likely benign
rs566950676	1:168,264,301	C/T	—	—
rs2525836270	1:168,266,961	G/C	—	likely pathogenic
rs748717639	1:168,266,966	C/T	—	likely pathogenic
rs2525836300	1:168,266,975	A/G	—	likely pathogenic
rs2525836317	1:168,266,982	G/T	—	uncertain significance
rs140528998	1:168,266,985	C/G	—	pathogenic
rs771321846	1:168,266,987	A/G	—	uncertain significance
rs1649149917	1:168,267,009	G/C	—	uncertain significance
rs1649150256	1:168,267,024	G/T	—	pathogenic
rs1558193255	1:168,269,658	A/T	—	likely pathogenic
rs373113854	1:168,269,676	G/A	—	likely benign
rs930801019	1:168,269,682	G/T	—	pathogenic
rs201741262	1:168,269,704	A/G	—	uncertain significance
rs202072731	1:168,269,718	C/T	—	uncertain significance
rs371273315	1:168,269,737	A/C	—	likely benign
rs4656579	1:168,274,201	A/G	—	benign
rs752195406	1:168,274,239	A/G	—	uncertain significance
rs758812467	1:168,274,270	C/T	—	uncertain significance
rs77425733	1:168,274,279	T/C	—	benign
rs768852976	1:168,274,284	A/C	—	uncertain significance
rs1215287541	1:168,274,297	C/T	—	uncertain significance
rs752325337	1:168,274,332	G/T	—	uncertain significance
rs753572197	1:168,274,358	G/A	—	uncertain significance
rs74315376	1:168,274,374	C/T	stop gained	pathogenic
rs763382655	1:168,274,436	T/G	—	uncertain significance
rs71632355	1:168,277,966	A/G	—	benign
rs190403730	1:168,277,967	T/G	—	benign
rs1649461770	1:168,277,995	G/A	—	uncertain significance
rs368259445	1:168,278,000	A/C	—	uncertain significance
rs1253987756	1:168,278,012	C/A	—	uncertain significance
rs772038103	1:168,278,022	C/T	—	uncertain significance
rs1649463151	1:168,278,045	T/G	—	uncertain significance
rs999986643	1:168,278,093	G/A	—	uncertain significance
rs113436244	1:168,278,099	A/G	—	uncertain significance
rs769378709	1:168,278,126	C/T	—	likely benign
rs201753269	1:168,281,939	T/C	—	benign
rs2525865060	1:168,281,958	C/T	—	likely benign
rs765359182	1:168,281,959	C/T	—	likely benign
rs369468092	1:168,281,982	C/T	—	likely benign
rs199644548	1:168,281,983	G/A	—	uncertain significance
rs138278388	1:168,281,995	G/T	—	uncertain significance
rs1401495934	1:168,282,013	C/T	—	uncertain significance
rs34885709	1:168,282,015	C/T	—	benign
rs142374002	1:168,282,021	C/T	—	benign
rs370573055	1:168,282,031	G/A	—	uncertain significance
rs200775601	1:168,282,040	C/T	—	conflicting classifications of pathogenicity
rs139271595	1:168,282,042	C/T	—	likely benign
rs759174668	1:168,282,049	C/A	—	uncertain significance
rs144416092	1:168,282,058	A/G	—	uncertain significance
rs775315487	1:168,282,138	C/A	—	uncertain significance
rs2525865735	1:168,282,164	T/C	—	uncertain significance
rs200161002	1:168,282,171	G/A	—	likely benign
rs370679374	1:168,282,180	C/T	—	likely benign

Showing 100 of 132 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.