TTC7A

tetratricopeptide repeat domain 7A

Summary

This gene encodes a protein containing tetratricopeptide repeats. Mutations in this gene disrupt intestinal development and can cause early onset inflammatory bowel disease and intestinal atresia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]

Known Variants887 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs62140550	2:47,143,989	G/A	—	benign
rs35134599	2:47,144,170	A/C	—	benign
rs13388612	2:47,144,203	C/G	—	benign
rs1300459632	2:47,144,341	C/T	—	uncertain significance
rs1411345959	2:47,144,349	G/A	—	likely benign
rs555979766	2:47,144,378	C/T	—	likely benign
rs76192704	2:47,144,394	C/G	—	likely benign
rs6715620	2:47,144,532	T/C	—	benign
rs6729120	2:47,144,629	A/G	—	benign
rs6419615	2:47,152,291	G/T	—	—
rs4583513	2:47,167,986	T/C	—	benign
rs4314044	2:47,168,070	A/G	—	benign
rs6754439	2:47,168,327	C/A	—	benign
rs140303915	2:47,168,597	C/A	—	benign
rs1274237789	2:47,168,692	G/T	—	uncertain significance
rs1670377724	2:47,168,695	C/T	—	likely benign
rs377502418	2:47,168,701	C/T	—	likely benign
rs1572670688	2:47,168,707	C/T	—	likely benign
rs1041638738	2:47,168,709	A/T	—	uncertain significance
rs2466127778	2:47,168,710	C/T	—	likely benign
rs2466127784	2:47,168,711	C/T	—	likely benign
rs2466127792	2:47,168,712	T/C	—	uncertain significance
rs1479331669	2:47,168,715	A/G	—	uncertain significance
rs1187105862	2:47,168,716	G/A	—	likely benign
rs550715352	2:47,168,724	G/C	—	uncertain significance
rs775389933	2:47,168,726	G/A	—	uncertain significance
rs1177931649	2:47,168,732	G/C	—	uncertain significance
rs762989436	2:47,168,739	G/A	—	uncertain significance
rs1315722693	2:47,168,741	C/G	—	uncertain significance
rs751550092	2:47,168,751	G/C	—	uncertain significance
rs910842442	2:47,168,753	C/T	—	uncertain significance
rs2466128598	2:47,168,759	G/T	—	uncertain significance
rs2103887947	2:47,168,761	C/T	—	likely benign
rs750887765	2:47,168,769	C/T	—	uncertain significance
rs144050892	2:47,168,774	C/T	—	likely benign
rs1156510458	2:47,168,781	G/A	—	uncertain significance
rs1409686440	2:47,168,782	G/C	—	likely benign
rs2466129023	2:47,168,786	C/T	—	likely benign
rs2466129051	2:47,168,787	T/C	—	uncertain significance
rs2466129068	2:47,168,788	G/C	—	likely benign
rs1179064463	2:47,168,793	C/T	—	uncertain significance
rs865919847	2:47,168,804	C/G	—	uncertain significance
rs1403661278	2:47,168,812	C/T	—	likely benign
rs1305430049	2:47,168,816	G/C	—	uncertain significance
rs2466129482	2:47,168,817	G/A	—	uncertain significance
rs1454748257	2:47,168,821	C/A	—	uncertain significance
rs557981380	2:47,168,822	A/G	—	uncertain significance
rs941070225	2:47,168,825	C/A	—	likely benign
rs1288910906	2:47,168,828	G/C	—	uncertain significance
rs1489770738	2:47,168,833	C/G	—	uncertain significance
rs906523542	2:47,168,834	C/G	—	uncertain significance
rs117017326	2:47,168,838	G/C	—	benign
rs776259833	2:47,168,842	A/G	—	likely benign
rs963602999	2:47,168,843	G/A	—	uncertain significance
rs201688234	2:47,168,844	C/T	—	uncertain significance
rs1572671568	2:47,168,849	A/G	—	uncertain significance
rs2466130107	2:47,168,860	C/G	—	uncertain significance
rs573720504	2:47,168,871	A/C	—	likely benign
rs6755386	2:47,168,892	G/C	—	benign
rs6755303	2:47,169,003	C/T	—	benign
rs6729569	2:47,169,099	A/C	—	benign
rs1225170571	2:47,177,482	A/G	—	likely benign
rs370585197	2:47,177,488	A/G	—	likely benign
rs779842844	2:47,177,489	C/T	—	likely benign
rs1671295881	2:47,177,492	T/G	—	likely benign
rs112301354	2:47,177,506	C/G	—	conflicting classifications of pathogenicity
rs2466213540	2:47,177,508	T/A	—	uncertain significance
rs374016606	2:47,177,511	G/C	—	uncertain significance
rs923640720	2:47,177,519	C/T	—	likely benign
rs773385892	2:47,177,521	G/C	—	likely benign
rs367596523	2:47,177,525	G/A	—	uncertain significance
rs147914967	2:47,177,528	G/A	missense variant	pathogenic
rs1288345150	2:47,177,531	G/A	—	uncertain significance
rs1558499471	2:47,177,543	C/T	—	pathogenic
rs368496761	2:47,177,563	T/C	—	likely benign
rs145327046	2:47,177,565	C/A	—	uncertain significance
rs749883233	2:47,177,579	T/C	—	uncertain significance
rs2103966391	2:47,177,581	C/T	—	likely benign
rs755771170	2:47,177,583	T/A	—	uncertain significance
rs1462879647	2:47,177,592	T/C	—	uncertain significance
rs766411601	2:47,177,597	A/T	—	pathogenic
rs886042805	2:47,177,603	G/T	stop gained	pathogenic
rs145350780	2:47,177,607	C/T	—	uncertain significance
rs768316317	2:47,177,608	G/A	—	likely benign
rs748068913	2:47,177,612	A/G	—	uncertain significance
rs61738825	2:47,177,617	T/C	—	benign
rs1290444100	2:47,177,620	A/G	—	likely benign
rs1385338357	2:47,177,625	A/G	—	uncertain significance
rs2103966961	2:47,177,632	T/C	—	likely benign
rs765484679	2:47,177,637	G/A	—	uncertain significance
rs201960602	2:47,177,645	C/G	—	likely benign
rs1671312601	2:47,177,652	A/G	—	uncertain significance
rs750006009	2:47,177,653	T/G	—	uncertain significance
rs1671313057	2:47,177,655	G/A	—	uncertain significance
rs2466215566	2:47,177,656	G/A	—	likely benign
rs115234247	2:47,177,664	C/T	—	likely benign
rs1417579293	2:47,177,669	A/G	—	uncertain significance
rs553269542	2:47,177,672	C/A	—	likely benign
rs574898082	2:47,177,673	G/A	—	likely benign
rs368365011	2:47,177,674	T/C	—	likely benign

Showing 100 of 887 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.