KLF1

KLF transcription factor 1

Summary

This gene encodes a hematopoietic-specific transcription factor that induces high-level expression of adult beta-globin and other erythroid genes. The zinc-finger protein binds to the DNA sequence CCACACCCT found in the beta hemoglobin promoter. Heterozygous loss-of-function mutations in this gene result in the dominant In(Lu) blood phenotype. [provided by RefSeq, Oct 2009]

Known Variants132 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs538356283	19:12,995,245	G/C	—	benign
rs375799978	19:12,995,332	G/C	—	uncertain significance
rs1970414362	19:12,995,387	C/G	—	uncertain significance
rs767532783	19:12,995,388	T/C	—	uncertain significance
rs16978754	19:12,995,403	C/T	—	benign
rs531279487	19:12,995,408	T/C	—	benign
rs16978757	19:12,995,422	G/A	—	benign
rs867980189	19:12,995,436	G/A	—	uncertain significance
rs564687827	19:12,995,445	G/A	—	benign
rs137908457	19:12,995,514	C/T	—	benign
rs149022596	19:12,995,677	A/T	—	benign
rs778904219	19:12,995,697	G/A	—	uncertain significance
rs745810050	19:12,995,709	C/T	—	uncertain significance
rs1481003545	19:12,995,711	C/T	—	likely benign
rs398122931	19:12,995,717	G/T	missense variant	pathogenic
rs1426821372	19:12,995,724	G/A	—	uncertain significance
rs144695155	19:12,995,729	G/A	—	likely benign
rs1232742005	19:12,995,752	G/A	—	uncertain significance
rs146658904	19:12,995,762	C/G	—	uncertain significance
rs1490648081	19:12,995,763	T/A	—	likely benign
rs2512554545	19:12,995,764	G/C	—	uncertain significance
rs483352839	19:12,995,766	C/T	missense variant	pathogenic
rs760145920	19:12,995,769	C/T	—	uncertain significance
rs1970419176	19:12,995,772	A/G	—	uncertain significance
rs387907599	19:12,995,776	G/T	missense variant	pathogenic
rs483352841	19:12,995,787	G/C	missense variant	pathogenic
rs200637478	19:12,995,810	C/T	—	conflicting classifications of pathogenicity
rs397514634	19:12,995,811	A/C	missense variant	pathogenic
rs267607201	19:12,995,815	C/T	missense variant	pathogenic
rs769526751	19:12,995,834	C/G	—	uncertain significance
rs1385256977	19:12,995,836	A/G	—	uncertain significance
rs572756401	19:12,995,840	G/T	—	uncertain significance
rs911977871	19:12,995,852	C/A	—	likely benign
rs145551738	19:12,995,860	C/G	—	uncertain significance
rs1262839507	19:12,995,881	G/A	—	likely benign
rs536968861	19:12,995,886	G/A	—	likely benign
rs984782238	19:12,996,118	C/T	—	likely benign
rs483352840	19:12,996,130	C/T	—	pathogenic
rs963532123	19:12,996,139	G/T	—	uncertain significance
rs137852688	19:12,996,149	G/A	missense variant	pathogenic
rs377567042	19:12,996,150	C/A	—	likely benign
rs387907598	19:12,996,152	C/G	missense variant	pathogenic
rs137852687	19:12,996,170	T/A	stop gained	pathogenic
rs1970426484	19:12,996,180	C/T	—	conflicting classifications of pathogenicity
rs267607202	19:12,996,182	T/C	missense variant	affects
rs1293678069	19:12,996,190	C/T	—	uncertain significance
rs745347362	19:12,996,193	G/A	—	uncertain significance
rs918078814	19:12,996,234	C/T	—	likely benign
rs558942739	19:12,996,235	G/C	—	conflicting classifications of pathogenicity
rs199685739	19:12,996,241	C/A	—	conflicting classifications of pathogenicity
rs753637091	19:12,996,258	C/T	—	likely benign
rs756981857	19:12,996,259	G/C	—	uncertain significance
rs778399478	19:12,996,260	C/A	—	uncertain significance
rs1452811720	19:12,996,271	A/G	—	conflicting classifications of pathogenicity
rs757861047	19:12,996,287	C/T	—	conflicting classifications of pathogenicity
rs892379622	19:12,996,292	G/A	—	uncertain significance
rs569742788	19:12,996,294	C/A	—	likely benign
rs746668810	19:12,996,300	G/A	—	likely benign
rs771247632	19:12,996,316	G/A	—	uncertain significance
rs2512555436	19:12,996,318	C/T	—	likely benign
rs759742641	19:12,996,334	C/T	—	uncertain significance
rs775669419	19:12,996,354	G/A	—	conflicting classifications of pathogenicity
rs899654024	19:12,996,363	G/T	—	likely benign
rs1375561925	19:12,996,364	G/A	—	uncertain significance
rs760708625	19:12,996,366	C/T	—	likely benign
rs1970432271	19:12,996,368	C/T	—	uncertain significance
rs1970432484	19:12,996,392	G/C	—	uncertain significance
rs1334269746	19:12,996,394	T/C	—	uncertain significance
rs2145927881	19:12,996,395	G/A	—	conflicting classifications of pathogenicity
rs530729436	19:12,996,415	G/C	—	likely benign
rs1264877866	19:12,996,421	G/T	—	uncertain significance
rs2512555640	19:12,996,435	G/T	—	pathogenic
rs886054236	19:12,996,438	C/T	—	conflicting classifications of pathogenicity
rs1297604452	19:12,996,453	G/C	—	pathogenic
rs2512555715	19:12,996,457	G/A	—	uncertain significance
rs1180587635	19:12,996,465	C/T	—	likely benign
rs992411302	19:12,996,488	C/T	—	uncertain significance
rs2072596	19:12,996,500	A/G	—	likely benign
rs547785696	19:12,996,503	A/T	—	conflicting classifications of pathogenicity
rs1433045365	19:12,996,510	C/A	—	likely benign
rs566095433	19:12,996,524	C/T	—	uncertain significance
rs892121558	19:12,996,540	C/T	—	likely benign
rs536906116	19:12,996,549	C/T	—	likely benign
rs1040963205	19:12,996,551	C/T	—	uncertain significance
rs1188707644	19:12,996,555	C/T	—	likely benign
rs772655521	19:12,996,566	C/T	—	uncertain significance
rs1326662123	19:12,996,591	T/C	—	likely benign
rs1227351853	19:12,996,595	C/T	—	uncertain significance
rs887902700	19:12,996,601	A/C	—	uncertain significance
rs1184106505	19:12,996,613	G/T	—	uncertain significance
rs962054327	19:12,996,619	G/A	—	uncertain significance
rs2512556070	19:12,996,620	C/T	—	uncertain significance
rs1426116895	19:12,996,623	G/A	—	affects
rs111888566	19:12,996,635	G/A	—	uncertain significance
rs2145928431	19:12,996,642	A/G	—	likely benign
rs2512556126	19:12,996,660	A/C	—	likely benign
rs912337632	19:12,996,676	A/T	—	uncertain significance
rs886054237	19:12,996,691	C/T	—	uncertain significance
rs969578382	19:12,996,698	A/C	—	uncertain significance
rs906707543	19:12,996,711	C/T	—	likely benign

Showing 100 of 132 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.