NFIA

nuclear factor I A

Summary

This gene encodes a member of the NF1 (nuclear factor 1) family of transcription factors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

Known Variants255 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1779863	1:61,542,892	A/G	—	benign
rs140250340	1:61,547,240	A/G	—	likely benign
rs1305426504	1:61,547,626	G/A	—	uncertain significance
rs144213945	1:61,547,655	G/A	—	likely benign
rs1175426296	1:61,547,662	C/T	—	uncertain significance
rs1294819009	1:61,547,681	C/A	—	uncertain significance
rs1570105997	1:61,547,710	C/T	—	uncertain significance
rs992223479	1:61,547,724	G/C	—	uncertain significance
rs937674643	1:61,548,434	C/A	—	uncertain significance
rs1399277784	1:61,548,464	A/C	—	uncertain significance
rs1553148514	1:61,548,465	T/C	—	conflicting classifications of pathogenicity
rs2524179657	1:61,548,466	G/A	—	pathogenic
rs1646136399	1:61,548,478	C/G	—	likely benign
rs777375238	1:61,548,481	T/C	—	likely benign
rs747260684	1:61,548,486	C/G	—	likely benign
rs2524179770	1:61,548,488	C/T	—	pathogenic
rs2524179778	1:61,548,489	A/G	—	uncertain significance
rs2524179794	1:61,548,491	G/C	—	pathogenic
rs757382286	1:61,548,498	G/A	—	likely benign
rs963775266	1:61,548,661	T/G	—	benign
rs56772010	1:61,553,618	G/A	—	likely benign
rs3767302	1:61,553,801	C/G	—	benign
rs2524199018	1:61,553,815	T/G	—	likely benign
rs1646253231	1:61,553,819	A/G	—	pathogenic
rs2100413954	1:61,553,829	T/A	—	uncertain significance
rs2524199142	1:61,553,855	C/G	—	uncertain significance
rs1064794841	1:61,553,863	C/T	stop gained	pathogenic
rs2524199246	1:61,553,878	A/T	—	uncertain significance
rs1646254633	1:61,553,882	G/A	—	pathogenic
rs2100414066	1:61,553,893	C/T	—	pathogenic
rs1646254862	1:61,553,895	G/A	—	likely benign
rs2100414085	1:61,553,899	C/T	—	likely pathogenic
rs1553149167	1:61,553,905	C/T	—	conflicting classifications of pathogenicity
rs1553149169	1:61,553,906	G/A	—	uncertain significance
rs1222615723	1:61,553,931	G/A	—	likely benign
rs779380344	1:61,553,946	A/G	—	likely benign
rs776408635	1:61,553,959	G/A	—	uncertain significance
rs769434842	1:61,553,979	T/G	—	uncertain significance
rs2524199840	1:61,553,981	A/G	—	uncertain significance
rs201450663	1:61,553,987	C/T	—	conflicting classifications of pathogenicity
rs1557555713	1:61,553,991	G/C	—	uncertain significance
rs1164340886	1:61,553,994	C/T	—	likely benign
rs2100414291	1:61,553,998	C/T	—	pathogenic
rs1553149182	1:61,554,013	C/T	—	pathogenic
rs2524200017	1:61,554,039	T/C	—	likely benign
rs1304716170	1:61,554,042	C/T	—	likely benign
rs1553149185	1:61,554,043	C/T	—	pathogenic
rs377002433	1:61,554,047	C/A	—	uncertain significance
rs41289414	1:61,554,048	C/T	—	likely benign
rs2524200101	1:61,554,049	G/A	—	uncertain significance
rs1557555839	1:61,554,060	G/C	—	uncertain significance
rs2524200335	1:61,554,086	A/G	—	uncertain significance
rs1259875626	1:61,554,096	A/G	—	likely benign
rs1064796492	1:61,554,101	G/C	missense variant	pathogenic
rs2524200586	1:61,554,103	G/T	—	uncertain significance
rs2524200686	1:61,554,136	C/T	—	conflicting classifications of pathogenicity
rs1570123287	1:61,554,145	G/C	—	likely pathogenic
rs2524200716	1:61,554,149	G/A	—	pathogenic
rs2524200726	1:61,554,151	C/T	—	uncertain significance
rs886039429	1:61,554,154	C/T	missense variant	pathogenic
rs769522583	1:61,554,166	A/G	—	pathogenic
rs775115982	1:61,554,177	G/A	—	likely benign
rs1553149211	1:61,554,193	G/A	—	uncertain significance
rs2524200923	1:61,554,209	G/A	—	uncertain significance
rs1047311810	1:61,554,216	G/A	—	likely benign
rs2524201017	1:61,554,227	C/T	—	uncertain significance
rs2524201051	1:61,554,233	G/A	—	likely pathogenic
rs2100414767	1:61,554,235	G/T	—	likely pathogenic
rs2100414813	1:61,554,256	C/A	—	uncertain significance
rs772940972	1:61,554,258	A/G	—	likely benign
rs2524201328	1:61,554,260	G/C	—	uncertain significance
rs2524201334	1:61,554,262	T/C	—	uncertain significance
rs2524201346	1:61,554,270	A/G	—	likely benign
rs1646261569	1:61,554,275	T/C	—	uncertain significance
rs760931904	1:61,554,279	T/C	—	likely benign
rs766475223	1:61,554,282	C/T	—	likely benign
rs2524201401	1:61,554,284	A/C	—	uncertain significance
rs2524201499	1:61,554,297	A/G	—	uncertain significance
rs374849949	1:61,554,316	C/T	—	conflicting classifications of pathogenicity
rs537429659	1:61,554,333	A/G	—	likely benign
rs2524201709	1:61,554,348	A/G	—	likely benign
rs1646262775	1:61,554,353	G/T	—	uncertain significance
rs12126737	1:61,554,627	G/T	—	benign
rs576532941	1:61,595,365	G/A	—	—
rs17121650	1:61,596,556	C/T	intron variant	—
rs334726	1:61,609,529	A/G	—	—
rs334706	1:61,616,247	G/C	intron variant	—
rs334700	1:61,619,463	A/T	—	—
rs334699	1:61,620,496	A/G	intron variant	—
rs334698	1:61,620,993	C/T	—	—
rs75481391	1:61,670,582	T/A	regulatory region variant	—
rs74328314	1:61,670,759	A/G	intron variant	—
rs55878063	1:61,671,909	G/A	intron variant	—
rs78923241	1:61,675,892	G/A	intron variant	—
rs188503412	1:61,680,217	A/G	intron variant	—
rs868110	1:61,682,308	C/G	intron variant	—
rs9970140	1:61,684,288	A/G	intron variant	—
rs184810849	1:61,685,381	G/C	intron variant	—
rs59708846	1:61,687,651	G/A	intron variant	—
rs17121835	1:61,693,632	A/G	intron variant	—

Showing 100 of 255 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.