TDRD7

tudor domain containing 7

Summary

The protein encoded by this gene belongs to the Tudor family of proteins. This protein contains conserved Tudor domains and LOTUS domains. It is a component of RNA granules, which function in RNA processing. Mutations in this gene have been associated with cataract formation in mouse and human. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

Known Variants193 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs886063211	9:100,174,380	G/T	—	uncertain significance
rs10982012	9:100,174,394	C/G	—	benign
rs886063212	9:100,174,405	T/C	—	uncertain significance
rs942258191	9:100,174,407	C/G	—	uncertain significance
rs373486700	9:100,174,444	G/C	—	uncertain significance
rs879522205	9:100,174,463	A/G	—	uncertain significance
rs572084541	9:100,174,480	G/A	—	uncertain significance
rs540892282	9:100,174,485	G/C	—	uncertain significance
rs747079212	9:100,190,739	T/C	—	uncertain significance
rs1381532	9:100,190,780	A/G	—	benign
rs749676206	9:100,190,801	T/C	—	uncertain significance
rs144477083	9:100,190,936	G/C	—	uncertain significance
rs538646618	9:100,190,944	G/C	—	uncertain significance
rs148039648	9:100,190,946	T/C	—	uncertain significance
rs763703339	9:100,190,966	A/C	—	uncertain significance
rs10817568	9:100,190,972	C/T	—	benign
rs16920147	9:100,190,973	G/A	—	benign
rs60564655	9:100,191,123	T/C	—	benign
rs13286028	9:100,192,986	C/T	—	benign
rs13301794	9:100,193,001	A/G	—	benign
rs7874295	9:100,193,113	T/C	—	benign
rs769552442	9:100,193,230	A/G	—	uncertain significance
rs143579801	9:100,193,238	C/T	—	conflicting classifications of pathogenicity
rs200783564	9:100,193,302	C/T	—	uncertain significance
rs570001949	9:100,193,303	G/A	—	uncertain significance
rs146350172	9:100,194,177	A/G	—	likely benign
rs201833921	9:100,194,297	A/G	—	benign
rs1457009230	9:100,194,342	G/T	—	likely benign
rs200841827	9:100,194,348	A/G	—	likely benign
rs1828112866	9:100,194,351	T/A	—	uncertain significance
rs1317477843	9:100,194,373	A/G	—	uncertain significance
rs139696600	9:100,194,394	A/G	—	conflicting classifications of pathogenicity
rs144510531	9:100,194,401	C/T	—	conflicting classifications of pathogenicity
rs2045732	9:100,194,406	T/C	—	benign
rs1170729317	9:100,194,453	A/G	—	uncertain significance
rs149804703	9:100,194,500	G/A	—	likely benign
rs13290426	9:100,194,534	G/A	—	likely benign
rs16920253	9:100,194,653	A/G	—	benign
rs3214069	9:100,201,360	G/A	—	benign
rs1481127355	9:100,201,520	A/T	—	likely benign
rs1193482126	9:100,201,522	C/T	—	likely benign
rs2490603735	9:100,201,531	A/T	—	uncertain significance
rs748113269	9:100,201,538	A/G	—	uncertain significance
rs75516981	9:100,201,542	G/A	—	uncertain significance
rs772250609	9:100,201,545	C/A	—	uncertain significance
rs7853578	9:100,201,551	A/G	—	benign
rs200603850	9:100,201,568	A/G	—	benign
rs139706467	9:100,201,585	A/G	—	conflicting classifications of pathogenicity
rs1344211705	9:100,201,587	T/C	—	likely benign
rs370507991	9:100,201,613	A/G	—	uncertain significance
rs3214070	9:100,201,664	A/G	—	benign
rs17423994	9:100,203,708	T/G	—	benign
rs752555849	9:100,203,984	G/A	—	uncertain significance
rs1027320837	9:100,203,987	T/C	—	uncertain significance
rs756033246	9:100,203,994	C/G	—	uncertain significance
rs758372213	9:100,204,002	A/G	—	uncertain significance
rs199787418	9:100,204,020	C/T	—	uncertain significance
rs1036293350	9:100,204,027	A/G	—	uncertain significance
rs146605951	9:100,204,127	A/G	—	likely benign
rs201246147	9:100,204,140	T/C	—	uncertain significance
rs141457141	9:100,204,156	C/T	—	uncertain significance
rs748412471	9:100,204,157	G/A	—	likely pathogenic
rs953864362	9:100,222,505	G/A	—	uncertain significance
rs1466116523	9:100,222,515	A/G	—	uncertain significance
rs78579695	9:100,222,516	G/A	—	benign
rs540915855	9:100,222,556	C/G	—	uncertain significance
rs761704668	9:100,222,591	G/A	—	uncertain significance
rs2490655661	9:100,222,608	C/T	—	uncertain significance
rs111320552	9:100,222,636	A/G	—	conflicting classifications of pathogenicity
rs2490656034	9:100,222,662	C/T	—	uncertain significance
rs747777898	9:100,222,709	T/G	—	uncertain significance
rs765628635	9:100,222,733	—	—	pathogenic
rs887898280	9:100,222,793	C/A	—	uncertain significance
rs1402822879	9:100,222,828	G/T	—	uncertain significance
rs112811088	9:100,222,865	C/A	—	uncertain significance
rs766673237	9:100,222,880	A/G	—	uncertain significance
rs752046246	9:100,222,887	C/A	—	uncertain significance
rs186876252	9:100,222,909	G/T	—	uncertain significance
rs777608846	9:100,222,912	G/A	—	uncertain significance
rs373534828	9:100,222,940	A/G	—	likely benign
rs143511562	9:100,222,945	C/T	—	likely benign
rs146047308	9:100,222,957	C/T	—	uncertain significance
rs990524723	9:100,222,992	C/T	—	uncertain significance
rs192493596	9:100,223,315	C/T	—	likely benign
rs7871235	9:100,223,330	A/G	—	benign
rs4278253	9:100,226,982	G/A	—	benign
rs4397526	9:100,227,011	T/C	—	benign
rs115903922	9:100,227,017	T/C	—	likely benign
rs886063213	9:100,227,126	A/G	—	uncertain significance
rs754974413	9:100,227,216	A/G	—	uncertain significance
rs1479883566	9:100,227,251	G/A	—	uncertain significance
rs761262187	9:100,227,253	C/T	—	likely benign
rs764759233	9:100,227,259	G/C	—	uncertain significance
rs374337717	9:100,227,264	C/T	—	uncertain significance
rs1828798550	9:100,227,279	A/G	—	uncertain significance
rs151288166	9:100,227,317	A/G	—	benign
rs757235995	9:100,227,321	T/C	—	uncertain significance
rs41316506	9:100,227,360	A/G	—	likely benign
rs4743099	9:100,227,423	A/G	—	benign
rs75517127	9:100,232,641	T/C	—	likely benign

Showing 100 of 193 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.