GATA1

GATA binding protein 1

Summary

This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. [provided by RefSeq, Jul 2008]

Known Variants264 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs146587548	X:48,646,382	G/A	intron variant	—
rs5906709	X:48,646,906	A/G	intron variant	—
rs66717003	X:48,649,456	T/G	—	benign
rs2519343547	X:48,649,486	C/T	—	likely benign
rs782439030	X:48,649,493	C/T	—	likely benign
rs587776451	X:48,649,518	T/C	missense variant	pathogenic
rs2147305526	X:48,649,519	G/T	—	pathogenic
rs782214998	X:48,649,535	G/C	—	uncertain significance
rs2062673416	X:48,649,551	C/G	—	pathogenic
rs2147305570	X:48,649,555	G/A	—	likely benign
rs1478971085	X:48,649,557	C/A	—	uncertain significance
rs1045976499	X:48,649,564	C/A	—	likely benign
rs2062673523	X:48,649,565	C/T	—	pathogenic
rs12841023	X:48,649,567	G/C	—	uncertain significance
rs1557020013	X:48,649,577	C/T	—	uncertain significance
rs782188059	X:48,649,580	G/A	—	benign
rs139200954	X:48,649,581	C/G	—	likely benign
rs2519343657	X:48,649,584	T/G	—	uncertain significance
rs2519343669	X:48,649,596	C/T	—	uncertain significance
rs1557020021	X:48,649,605	C/G	—	pathogenic
rs368193049	X:48,649,609	G/T	—	conflicting classifications of pathogenicity
rs782698349	X:48,649,610	G/A	—	conflicting classifications of pathogenicity
rs782155672	X:48,649,623	C/T	—	uncertain significance
rs372131208	X:48,649,629	C/T	—	likely benign
rs892837818	X:48,649,633	G/A	—	uncertain significance
rs2519343728	X:48,649,638	T/G	—	uncertain significance
rs1223699669	X:48,649,659	C/A	—	uncertain significance
rs781856701	X:48,649,661	G/A	—	uncertain significance
rs2147305674	X:48,649,663	C/A	—	likely benign
rs201489369	X:48,649,665	C/G	—	uncertain significance
rs782678694	X:48,649,666	G/A	—	likely benign
rs2062674054	X:48,649,668	G/A	—	uncertain significance
rs2062674094	X:48,649,672	A/C	—	likely benign
rs142614402	X:48,649,674	C/A	—	benign
rs2062674135	X:48,649,676	A/T	—	uncertain significance
rs150572851	X:48,649,679	G/A	—	benign
rs782366452	X:48,649,680	C/T	—	uncertain significance
rs2519343805	X:48,649,682	G/A	—	uncertain significance
rs782299679	X:48,649,689	C/T	—	conflicting classifications of pathogenicity
rs139614533	X:48,649,690	G/A	—	likely benign
rs2519343848	X:48,649,702	C/G	—	pathogenic
rs2519343851	X:48,649,705	C/A	—	likely pathogenic
rs781912832	X:48,649,708	G/A	—	likely benign
rs149753411	X:48,649,712	G/C	—	uncertain significance
rs61753429	X:48,649,717	G/A	—	likely benign
rs1602219215	X:48,649,723	C/T	—	likely benign
rs1029589980	X:48,649,725	G/C	—	uncertain significance
rs141512330	X:48,649,726	A/G	—	likely benign
rs2147305769	X:48,649,727	C/T	—	uncertain significance
rs374300356	X:48,649,728	A/C	—	likely benign
rs1180375270	X:48,649,732	C/T	—	likely benign
rs781808940	X:48,649,734	C/T	—	uncertain significance
rs2062674480	X:48,649,735	A/G	—	pathogenic
rs587776452	X:48,649,736	G/C	missense variant	pathogenic
rs1569499366	X:48,649,737	G/C	—	pathogenic
rs2519343917	X:48,649,738	T/C	—	pathogenic
rs2519343920	X:48,649,741	C/T	—	uncertain significance
rs782691816	X:48,649,746	T/C	—	likely benign
rs2062674583	X:48,649,748	G/A	—	likely benign
rs2147305801	X:48,649,749	A/C	—	likely benign
rs782352992	X:48,649,753	G/T	—	likely benign
rs782005360	X:48,650,231	T/A	—	benign
rs782150782	X:48,650,247	A/G	—	uncertain significance
rs2519344348	X:48,650,248	C/T	—	uncertain significance
rs1557020159	X:48,650,254	T/G	—	uncertain significance
rs2147306078	X:48,650,260	T/G	—	uncertain significance
rs1365413309	X:48,650,264	C/T	—	likely benign
rs1557020162	X:48,650,267	A/G	—	likely benign
rs1557020166	X:48,650,272	T/C	—	uncertain significance
rs2519344379	X:48,650,281	T/C	—	uncertain significance
rs2519344382	X:48,650,283	G/A	—	uncertain significance
rs1465964092	X:48,650,286	G/A	—	uncertain significance
rs2147306107	X:48,650,288	G/T	—	likely benign
rs2147306116	X:48,650,295	G/A	—	uncertain significance
rs781920985	X:48,650,296	G/A	—	likely benign
rs782748775	X:48,650,306	A/G	—	likely benign
rs2519344422	X:48,650,309	T/C	—	likely benign
rs782123071	X:48,650,312	C/T	—	likely benign
rs782790256	X:48,650,313	G/A	—	conflicting classifications of pathogenicity
rs2147306181	X:48,650,320	C/T	—	uncertain significance
rs1377826601	X:48,650,321	C/A	—	likely benign
rs2062676321	X:48,650,324	C/T	—	likely benign
rs184815507	X:48,650,325	G/A	—	benign
rs782431585	X:48,650,330	G/C	—	uncertain significance
rs200599207	X:48,650,332	C/T	—	uncertain significance
rs2147306230	X:48,650,338	T/C	—	uncertain significance
rs2147306265	X:48,650,352	A/T	—	uncertain significance
rs2519344543	X:48,650,357	G/A	—	likely benign
rs782263736	X:48,650,367	C/T	—	likely benign
rs782208453	X:48,650,368	G/A	—	conflicting classifications of pathogenicity
rs147681544	X:48,650,369	C/T	—	benign
rs1317593957	X:48,650,370	G/A	—	conflicting classifications of pathogenicity
rs914292956	X:48,650,373	G/T	—	likely benign
rs782328620	X:48,650,375	C/T	—	likely benign
rs1557020191	X:48,650,377	C/G	—	uncertain significance
rs782008052	X:48,650,390	C/T	—	likely benign
rs200509606	X:48,650,391	G/A	—	benign
rs782695653	X:48,650,394	G/A	—	conflicting classifications of pathogenicity
rs1378991052	X:48,650,402	G/A	—	likely benign
rs782411113	X:48,650,403	G/A	—	uncertain significance

Showing 100 of 264 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.