GRHL3

grainyhead like transcription factor 3

Summary

This gene encodes a member of the grainyhead family of transcription factors. The encoded protein may function as a transcription factor during development, and has been shown to stimulate migration of endothelial cells. Multiple transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Aug 2010]

Known Variants150 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs371589164	1:24,646,071	C/G	—	likely benign
rs2247991	1:24,646,378	G/A	—	benign
rs79338443	1:24,646,387	A/C	—	benign
rs1324663	1:24,649,416	T/C	—	benign
rs114870282	1:24,649,795	C/T	—	benign
rs2486669	1:24,657,860	G/A	—	benign
rs2148651821	1:24,657,920	A/G	—	likely pathogenic
rs142248927	1:24,657,930	G/A	—	uncertain significance
rs138155321	1:24,657,998	A/G	—	uncertain significance
rs759937117	1:24,658,014	C/T	—	uncertain significance
rs142785065	1:24,658,015	G/A	—	likely benign
rs754006408	1:24,658,038	T/C	—	uncertain significance
rs2486668	1:24,658,063	C/G	missense variant	benign
rs770382649	1:24,658,072	G/A	—	benign
rs2522582333	1:24,658,104	T/C	—	likely pathogenic
rs6660854	1:24,658,115	C/G	—	benign
rs10903078	1:24,659,435	T/C	intron variant	—
rs61772766	1:24,660,916	T/C	—	benign
rs200425622	1:24,661,132	C/A	—	conflicting classifications of pathogenicity
rs534391501	1:24,661,151	G/A	—	benign
rs2522595826	1:24,661,169	C/T	—	uncertain significance
rs142708020	1:24,661,182	T/C	—	likely benign
rs12062028	1:24,662,903	G/C	—	benign
rs1282808266	1:24,662,973	T/A	—	uncertain significance
rs750417670	1:24,662,991	T/G	—	uncertain significance
rs372226155	1:24,662,998	C/T	—	likely benign
rs2522608508	1:24,663,023	C/T	—	likely benign
rs111363131	1:24,663,053	C/T	—	likely benign
rs765145591	1:24,663,061	G/C	—	uncertain significance
rs2522609919	1:24,663,170	G/T	—	likely benign
rs139093980	1:24,663,176	C/T	—	benign
rs371889064	1:24,663,177	G/A	—	conflicting classifications of pathogenicity
rs34637004	1:24,663,184	C/T	—	benign
rs35868286	1:24,663,212	T/C	—	benign
rs1166068949	1:24,663,255	C/G	—	uncertain significance
rs191739265	1:24,663,257	T/C	—	benign
rs116674530	1:24,663,265	C/T	—	likely benign
rs1569881482	1:24,663,269	C/G	—	likely benign
rs200674358	1:24,663,276	C/T	—	uncertain significance
rs150060454	1:24,663,277	G/A	—	uncertain significance
rs777682242	1:24,663,300	A/G	—	uncertain significance
rs144957254	1:24,663,311	A/T	—	benign
rs201895291	1:24,663,326	G/A	—	benign
rs201073516	1:24,663,569	C/T	—	likely benign
rs200652417	1:24,663,576	C/T	—	likely benign
rs141633634	1:24,663,601	C/T	—	uncertain significance
rs779916210	1:24,663,627	C/T	—	likely benign
rs746960105	1:24,663,652	C/A	—	likely benign
rs41268749	1:24,663,654	C/T	—	benign
rs769527584	1:24,663,659	G/C	—	likely benign
rs11809452	1:24,663,965	A/G	—	benign
rs1569884380	1:24,664,159	C/T	—	uncertain significance
rs886037767	1:24,664,177	C/T	synonymous variant	pathogenic
rs146172490	1:24,664,198	C/G	—	likely benign
rs2522619005	1:24,664,202	A/G	—	uncertain significance
rs145470039	1:24,664,220	G/A	—	benign
rs2522619191	1:24,664,227	T/G	—	uncertain significance
rs151096181	1:24,664,229	C/T	—	uncertain significance
rs2522619321	1:24,664,236	C/T	—	uncertain significance
rs34593559	1:24,664,239	C/G	—	benign
rs886037768	1:24,664,280	G/T	—	pathogenic
rs141594535	1:24,664,503	G/C	—	uncertain significance
rs149165410	1:24,664,520	A/G	—	likely benign
rs752673677	1:24,664,534	G/A	missense variant	pathogenic
rs1553172687	1:24,664,540	G/A	—	pathogenic
rs745531699	1:24,664,569	G/A	—	uncertain significance
rs772416796	1:24,664,574	G/A	—	likely benign
rs2522622618	1:24,664,575	C/T	—	pathogenic
rs1639895035	1:24,664,579	G/C	—	uncertain significance
rs369797169	1:24,664,589	C/G	—	uncertain significance
rs112332866	1:24,664,673	C/G	—	likely benign
rs145941763	1:24,666,165	C/T	—	likely benign
rs373187060	1:24,666,239	A/C	—	uncertain significance
rs201436767	1:24,666,261	T/G	—	benign
rs45511995	1:24,668,396	T/C	—	benign
rs1240818697	1:24,668,614	G/A	—	uncertain significance
rs11576645	1:24,668,667	C/G	—	benign
rs147284380	1:24,668,716	C/T	—	conflicting classifications of pathogenicity
rs879255245	1:24,668,728	C/T	missense variant	pathogenic
rs1315515436	1:24,668,729	G/A	—	pathogenic
rs4648974	1:24,668,842	C/T	—	benign
rs74062154	1:24,668,898	C/T	—	likely benign
rs368002933	1:24,669,176	C/T	—	likely benign
rs1486197604	1:24,669,200	T/C	—	uncertain significance
rs770938921	1:24,669,202	C/T	—	conflicting classifications of pathogenicity
rs145324418	1:24,669,204	C/T	—	likely benign
rs367619721	1:24,669,227	G/A	—	uncertain significance
rs766633283	1:24,669,244	C/T	—	uncertain significance
rs2522651353	1:24,669,262	G/T	—	uncertain significance
rs886037770	1:24,669,264	—	—	pathogenic
rs202191841	1:24,669,383	C/T	—	likely benign
rs771522036	1:24,669,403	C/T	—	uncertain significance
rs1640104624	1:24,669,414	G/A	—	uncertain significance
rs140365190	1:24,669,424	C/T	—	uncertain significance
rs544083411	1:24,669,436	G/T	—	uncertain significance
rs41268753	1:24,669,457	C/T	missense variant	benign
rs141193530	1:24,669,459	C/T	—	uncertain significance
rs114678222	1:24,669,464	C/T	—	benign
rs775989901	1:24,669,465	G/A	—	uncertain significance
rs143169996	1:24,669,481	A/G	—	benign

Showing 100 of 150 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.