RECQL4

RecQ like helicase 4

Summary

The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family. DNA helicases unwind double-stranded DNA into single-stranded DNAs and may modulate chromosome segregation. This gene is predominantly expressed in thymus and testis. Mutations in this gene are associated with Rothmund-Thomson, RAPADILINO and Baller-Gerold syndromes. [provided by RefSeq, Jan 2010]

Known Variants3,174 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs55805048	8:145,736,805	G/C	—	likely benign
rs56341125	8:145,736,817	G/T	—	conflicting classifications of pathogenicity
rs563816306	8:145,736,818	C/T	—	uncertain significance
rs41555416	8:145,736,819	G/A	—	conflicting classifications of pathogenicity
rs1827170381	8:145,736,820	G/A	—	likely benign
rs754822264	8:145,736,823	C/T	—	uncertain significance
rs1346196114	8:145,736,825	C/T	—	uncertain significance
rs1586786914	8:145,736,826	C/G	—	uncertain significance
rs748047415	8:145,736,828	G/A	—	uncertain significance
rs2130647931	8:145,736,830	A/T	—	uncertain significance
rs2537958108	8:145,736,831	G/A	—	likely benign
rs201384843	8:145,736,832	G/A	—	likely benign
rs2537958208	8:145,736,834	G/A	—	uncertain significance
rs1259980040	8:145,736,835	C/G	—	uncertain significance
rs1827173179	8:145,736,837	C/T	—	uncertain significance
rs781313959	8:145,736,839	T/C	—	uncertain significance
rs35225938	8:145,736,841	C/T	—	conflicting classifications of pathogenicity
rs386833854	8:145,736,841	—	—	pathogenic
rs770138542	8:145,736,842	G/A	—	uncertain significance
rs775914502	8:145,736,844	G/A	—	likely benign
rs1586787093	8:145,736,846	C/T	—	conflicting classifications of pathogenicity
rs146398243	8:145,736,847	C/T	—	likely benign
rs1156631125	8:145,736,848	A/G	—	uncertain significance
rs1377108265	8:145,736,850	G/A	—	likely benign
rs546643758	8:145,736,851	C/T	—	uncertain significance
rs1333144821	8:145,736,852	C/T	—	uncertain significance
rs774611413	8:145,736,853	C/G	—	likely benign
rs767956471	8:145,736,856	C/T	—	likely benign
rs1353637154	8:145,736,858	G/C	—	uncertain significance
rs772747279	8:145,736,859	G/A	—	likely benign
rs1827178887	8:145,736,860	G/T	—	uncertain significance
rs201809411	8:145,736,861	C/T	—	uncertain significance
rs1349097284	8:145,736,862	A/G	—	likely benign
rs753427189	8:145,736,863	T/C	—	uncertain significance
rs1586787251	8:145,736,865	G/C	—	uncertain significance
rs2537959047	8:145,736,866	A/C	—	uncertain significance
rs199885535	8:145,736,868	G/A	—	conflicting classifications of pathogenicity
rs2537959090	8:145,736,870	T/G	—	uncertain significance
rs752487649	8:145,736,872	A/G	—	uncertain significance
rs2537959122	8:145,736,873	G/A	—	likely benign
rs1827181327	8:145,736,875	T/C	—	uncertain significance
rs745930478	8:145,736,876	G/A	—	uncertain significance
rs535259922	8:145,736,878	A/G	—	likely benign
rs780285435	8:145,736,879	G/C	—	uncertain significance
rs768782202	8:145,736,880	G/C	—	likely pathogenic
rs1586787364	8:145,736,881	T/C	—	uncertain significance
rs745722387	8:145,736,884	T/C	—	uncertain significance
rs1586787396	8:145,736,886	T/A	—	uncertain significance
rs774756135	8:145,736,887	C/G	—	uncertain significance
rs1564786587	8:145,736,889	C/T	—	uncertain significance
rs1827186148	8:145,736,890	C/T	—	uncertain significance
rs2130648722	8:145,736,895	G/A	—	likely benign
rs557256260	8:145,736,896	C/T	—	uncertain significance
rs376981214	8:145,736,897	G/A	—	uncertain significance
rs2130648788	8:145,736,898	T/A	—	likely benign
rs370069034	8:145,736,899	C/T	—	uncertain significance
rs765804620	8:145,736,900	G/A	—	uncertain significance
rs2537959933	8:145,736,904	C/T	—	likely benign
rs939186872	8:145,736,905	T/G	—	uncertain significance
rs1827189895	8:145,736,908	C/T	—	uncertain significance
rs776146178	8:145,736,909	C/T	—	uncertain significance
rs139228543	8:145,736,910	G/C	—	uncertain significance
rs1341756990	8:145,736,911	T/C	—	uncertain significance
rs758188100	8:145,736,912	A/T	—	uncertain significance
rs763965257	8:145,736,913	C/T	—	conflicting classifications of pathogenicity
rs751477241	8:145,736,915	C/T	—	uncertain significance
rs757292188	8:145,736,916	C/G	—	uncertain significance
rs879192998	8:145,736,918	G/A	—	conflicting classifications of pathogenicity
rs587778648	8:145,736,920	G/A	—	uncertain significance
rs1452579046	8:145,736,921	C/G	—	uncertain significance
rs754019797	8:145,736,922	C/T	—	likely benign
rs1375776479	8:145,736,923	G/A	—	uncertain significance
rs2130649193	8:145,736,925	G/A	—	likely benign
rs779070043	8:145,736,926	T/C	—	uncertain significance
rs2130649211	8:145,736,928	G/C	—	uncertain significance
rs748529710	8:145,736,929	C/T	—	uncertain significance
rs2537960789	8:145,736,930	A/G	—	uncertain significance
rs1005731353	8:145,736,931	G/A	—	likely benign
rs772265082	8:145,736,932	G/A	—	uncertain significance
rs1038354357	8:145,736,933	G/A	—	uncertain significance
rs370738615	8:145,736,934	G/T	—	uncertain significance
rs1221050461	8:145,736,938	C/T	—	uncertain significance
rs2537961085	8:145,736,939	C/T	—	uncertain significance
rs1371218064	8:145,736,940	T/A	—	uncertain significance
rs1174432737	8:145,736,941	A/G	—	uncertain significance
rs747471318	8:145,736,942	C/T	—	likely benign
rs539465528	8:145,736,943	G/C	—	likely benign
rs35042350	8:145,736,947	G/A	—	likely benign
rs2130649454	8:145,736,948	A/G	—	uncertain significance
rs2130649472	8:145,736,949	G/A	—	likely benign
rs1176639334	8:145,736,952	A/G	—	likely benign
rs2537961479	8:145,736,954	G/C	—	likely benign
rs2537961568	8:145,736,957	A/G	—	likely benign
rs372780200	8:145,736,958	C/T	—	likely benign
rs2279243	8:145,737,040	C/T	—	benign
rs1564787161	8:145,737,044	T/G	—	likely benign
rs750267463	8:145,737,045	G/A	—	likely benign
rs2537963831	8:145,737,046	G/A	—	likely benign
rs575840682	8:145,737,047	G/T	—	likely benign
rs752841311	8:145,737,048	G/C	—	likely benign

Showing 100 of 3,174 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.