RTTN

rotatin

Summary

This gene encodes a large protein whose specific function is unknown. Absence of the orthologous protein in mouse results in embryonic lethality with deficient axial rotation, abnormal differentiation of the neural tube, and randomized looping of the heart tube during development. In human, mutations in this gene are associated with polymicrogyria with seizures. In human fibroblasts this protein localizes at the ciliary basal bodies. Given the intracellular localization of this protein and the phenotypic effects of mutations, this gene is suspected of playing a role in the maintenance of normal ciliary structure which in turn effects the developmental process of left-right organ specification, axial rotation, and perhaps notochord development. [provided by RefSeq, Jan 2013]

Known Variants1,100 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs7998	18:67,671,294	C/T	—	benign
rs369913051	18:67,671,382	G/A	—	likely benign
rs1568225983	18:67,671,389	A/T	—	uncertain significance
rs201561378	18:67,671,410	C/G	—	uncertain significance
rs1555689767	18:67,671,426	T/C	—	uncertain significance
rs2145420319	18:67,671,430	A/G	—	likely pathogenic
rs35558429	18:67,671,432	A/G	—	benign
rs2511774099	18:67,671,438	G/C	—	likely benign
rs751096280	18:67,671,439	G/A	—	uncertain significance
rs756900126	18:67,671,441	A/C	—	uncertain significance
rs780869363	18:67,671,444	T/C	—	likely benign
rs2056109384	18:67,671,448	G/C	—	uncertain significance
rs750094600	18:67,671,472	G/A	—	uncertain significance
rs779249909	18:67,671,479	T/A	—	likely benign
rs772525574	18:67,671,480	A/T	—	likely benign
rs1426216310	18:67,671,488	A/G	—	likely benign
rs10871658	18:67,671,656	C/T	—	benign
rs7241642	18:67,671,745	T/C	—	benign
rs145054997	18:67,671,750	T/C	—	likely benign
rs12968403	18:67,672,139	T/C	—	benign
rs150138947	18:67,672,213	A/G	—	likely benign
rs115029214	18:67,672,296	T/C	—	likely benign
rs781435816	18:67,672,462	C/T	—	uncertain significance
rs587780444	18:67,672,494	C/G	—	uncertain significance
rs367804618	18:67,672,511	A/G	—	likely benign
rs774113693	18:67,672,513	T/A	—	likely benign
rs372667386	18:67,672,517	T/C	—	likely benign
rs1383031424	18:67,672,521	T/G	—	likely benign
rs138797734	18:67,672,724	T/C	—	likely benign
rs11151554	18:67,672,751	T/C	—	benign
rs79010619	18:67,673,292	G/C	—	likely benign
rs73970810	18:67,673,466	G/T	—	likely benign
rs544290962	18:67,673,599	A/G	—	likely benign
rs2511784463	18:67,673,607	T/A	—	likely benign
rs2511784563	18:67,673,624	T/C	—	uncertain significance
rs772041707	18:67,673,654	G/C	—	uncertain significance
rs772690898	18:67,673,663	C/T	—	uncertain significance
rs760132290	18:67,673,671	A/G	—	likely benign
rs765947142	18:67,673,677	A/T	—	uncertain significance
rs2511784989	18:67,673,684	C/T	—	uncertain significance
rs759240444	18:67,673,693	C/A	—	uncertain significance
rs764353493	18:67,673,694	A/T	—	uncertain significance
rs34989098	18:67,673,697	C/T	—	conflicting classifications of pathogenicity
rs757807524	18:67,673,699	G/T	—	uncertain significance
rs996914209	18:67,673,709	T/C	—	uncertain significance
rs370225339	18:67,673,734	T/C	—	likely benign
rs373120534	18:67,673,736	T/C	—	likely benign
rs17081967	18:67,673,927	G/A	—	benign
rs60115813	18:67,674,049	A/G	—	benign
rs17805232	18:67,683,820	C/T	intron variant	—
rs186533402	18:67,684,485	G/C	—	likely benign
rs371520515	18:67,684,627	G/A	—	likely benign
rs2056572395	18:67,684,634	A/G	—	likely benign
rs374274442	18:67,684,642	C/T	—	likely pathogenic
rs141934309	18:67,684,647	A/G	—	likely benign
rs2145500874	18:67,684,649	C/A	—	uncertain significance
rs2056572982	18:67,684,651	A/T	—	uncertain significance
rs1156310217	18:67,684,652	G/T	—	uncertain significance
rs794727682	18:67,684,655	T/A	—	uncertain significance
rs370591340	18:67,684,677	G/A	—	likely benign
rs745431671	18:67,684,695	G/A	—	likely benign
rs769207423	18:67,684,705	G/A	—	uncertain significance
rs2511823481	18:67,684,706	G/A	—	uncertain significance
rs1201086381	18:67,684,725	G/A	—	likely benign
rs1568244546	18:67,684,730	T/C	—	uncertain significance
rs765307621	18:67,684,752	T/A	—	uncertain significance
rs201253231	18:67,684,763	A/G	missense variant	pathogenic
rs1349092201	18:67,684,772	G/A	—	uncertain significance
rs779720763	18:67,684,774	C/G	—	uncertain significance
rs2056577786	18:67,684,788	T/C	—	likely benign
rs371502520	18:67,684,796	C/G	—	uncertain significance
rs554677788	18:67,684,838	T/A	—	uncertain significance
rs368522402	18:67,684,842	C/G	—	likely benign
rs763131512	18:67,684,854	A/G	—	likely benign
rs764347798	18:67,684,855	T/A	—	uncertain significance
rs767219926	18:67,684,865	C/T	—	uncertain significance
rs77798966	18:67,684,875	C/A	—	uncertain significance
rs748843954	18:67,684,877	A/G	—	likely benign
rs1042234290	18:67,684,881	T/C	—	likely benign
rs747763973	18:67,684,885	G/A	—	uncertain significance
rs1453934971	18:67,684,906	T/C	—	uncertain significance
rs770327136	18:67,684,915	G/A	—	likely benign
rs764188218	18:67,684,922	T/C	—	likely benign
rs7244421	18:67,685,007	C/T	—	benign
rs73970813	18:67,685,029	T/C	—	benign
rs17081972	18:67,685,125	T/A	—	benign
rs73970816	18:67,687,645	A/G	—	benign
rs371554548	18:67,687,831	T/C	—	likely benign
rs1475286335	18:67,687,840	T/C	—	likely benign
rs587780443	18:67,687,846	C/T	—	uncertain significance
rs374886350	18:67,687,847	G/A	—	uncertain significance
rs2145521626	18:67,687,855	T/C	—	uncertain significance
rs2056675221	18:67,687,856	G/C	—	uncertain significance
rs2304378	18:67,687,860	C/T	—	benign
rs2511834815	18:67,687,870	C/T	—	uncertain significance
rs1222803787	18:67,687,879	G/A	—	uncertain significance
rs2511834936	18:67,687,889	G/A	—	likely benign
rs199546509	18:67,687,924	G/A	—	uncertain significance
rs971359981	18:67,687,937	G/C	—	uncertain significance
rs2056678491	18:67,687,953	C/T	—	likely benign

Showing 100 of 1,100 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.