AFF2

ALF transcription elongation factor 2

Summary

This gene encodes a putative transcriptional activator that is a member of the AF4\FMR2 gene family. This gene is associated with the folate-sensitive fragile X E locus on chromosome X. A repeat polymorphism in the fragile X E locus results in silencing of this gene causing Fragile X E syndrome. Fragile X E syndrome is a form of nonsyndromic X-linked cognitive disability. In addition, this gene contains 6-25 GCC repeats that are expanded to >200 repeats in the disease state. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jul 2016]

Known Variants251 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs781966000	X:147,582,644	C/T	—	likely benign
rs2052343731	X:147,582,648	G/A	—	uncertain significance
rs782673472	X:147,582,680	T/C	—	likely benign
rs1978082	X:147,583,958	G/C	—	—
rs2124372407	X:147,672,782	G/C	—	uncertain significance
rs148665432	X:147,683,026	C/T	intron variant	—
rs372514798	X:147,733,536	C/T	—	uncertain significance
rs1557256416	X:147,733,548	A/T	—	pathogenic
rs782129403	X:147,733,567	G/A	—	uncertain significance
rs2521359913	X:147,733,586	G/T	—	uncertain significance
rs2054208339	X:147,733,620	C/A	—	uncertain significance
rs2521360367	X:147,733,636	A/G	—	uncertain significance
rs1298554052	X:147,733,650	T/C	—	uncertain significance
rs2054208783	X:147,733,651	A/G	—	likely benign
rs797044705	X:147,743,423	T/C	—	uncertain significance
rs1057521925	X:147,743,447	C/T	—	uncertain significance
rs2521394598	X:147,743,478	A/T	—	uncertain significance
rs374628192	X:147,743,481	A/G	—	uncertain significance
rs2521394652	X:147,743,482	T/C	—	likely benign
rs1273005988	X:147,743,491	G/T	—	uncertain significance
rs1557257789	X:147,743,499	T/C	—	uncertain significance
rs2124468283	X:147,743,504	A/C	—	uncertain significance
rs782381902	X:147,743,511	A/G	—	uncertain significance
rs797045219	X:147,743,540	C/A	—	uncertain significance
rs370409032	X:147,743,542	A/G	—	likely benign
rs782198095	X:147,743,551	T/C	—	benign
rs781869744	X:147,743,565	C/T	—	uncertain significance
rs1057523628	X:147,743,588	T/C	—	uncertain significance
rs1557257822	X:147,743,607	A/G	—	uncertain significance
rs782692812	X:147,743,655	T/A	—	uncertain significance
rs986405557	X:147,743,658	C/T	—	uncertain significance
rs782277853	X:147,743,660	C/G	—	uncertain significance
rs912241826	X:147,743,691	T/G	—	uncertain significance
rs2521396139	X:147,743,697	A/G	—	uncertain significance
rs2521396299	X:147,743,723	T/C	—	uncertain significance
rs782411248	X:147,743,729	C/A	—	conflicting classifications of pathogenicity
rs782760586	X:147,743,740	T/C	—	likely benign
rs142559324	X:147,743,741	A/G	—	likely benign
rs797044704	X:147,743,743	C/A	—	uncertain significance
rs150996735	X:147,743,744	C/T	—	likely benign
rs781897582	X:147,743,759	G/C	—	uncertain significance
rs782480868	X:147,743,790	T/C	—	uncertain significance
rs201152809	X:147,743,809	C/A	—	uncertain significance
rs782397628	X:147,743,814	C/T	—	uncertain significance
rs781919576	X:147,743,861	C/A	—	uncertain significance
rs1438168791	X:147,743,918	T/A	—	uncertain significance
rs147842224	X:147,743,981	G/A	—	conflicting classifications of pathogenicity
rs886044832	X:147,744,029	C/T	—	uncertain significance
rs2521398395	X:147,744,039	G/T	—	uncertain significance
rs2054318590	X:147,744,051	A/G	—	uncertain significance
rs1457300208	X:147,744,059	C/T	—	uncertain significance
rs2521398657	X:147,744,101	C/A	—	uncertain significance
rs782802279	X:147,744,112	C/T	—	likely benign
rs373944993	X:147,744,139	G/A	—	likely benign
rs368459122	X:147,744,144	C/T	—	uncertain significance
rs782518861	X:147,744,174	T/C	—	uncertain significance
rs2521399345	X:147,744,230	C/G	—	uncertain significance
rs2521399523	X:147,744,260	C/A	—	uncertain significance
rs2124469469	X:147,744,264	A/T	—	uncertain significance
rs199510763	X:147,744,282	C/T	—	likely benign
rs1383012401	X:147,800,705	A/G	—	uncertain significance
rs1445509767	X:147,800,730	C/T	—	likely benign
rs241084	X:147,800,748	A/G	—	benign
rs241088	X:147,805,128	T/C	intron variant	—
rs1557271664	X:147,891,395	T/G	—	likely benign
rs2124640425	X:147,891,403	A/G	—	uncertain significance
rs199574795	X:147,919,181	A/G	—	uncertain significance
rs1036551142	X:147,919,198	C/T	—	uncertain significance
rs1697214488	X:147,919,201	A/T	—	uncertain significance
rs587780276	X:147,919,202	C/G	—	uncertain significance
rs200306870	X:147,919,205	C/A	—	benign
rs2070544297	X:147,919,213	A/G	—	uncertain significance
rs797045218	X:147,919,217	C/G	—	uncertain significance
rs373013286	X:147,919,244	C/A	—	likely benign
rs781832764	X:147,919,253	G/C	—	likely benign
rs929635504	X:147,919,257	G/A	—	uncertain significance
rs2070619300	X:147,924,527	G/A	—	likely pathogenic
rs2124671930	X:147,924,530	A/G	—	uncertain significance
rs2521462499	X:147,924,923	A/G	—	uncertain significance
rs782179754	X:147,924,933	C/T	—	uncertain significance
rs2521462731	X:147,924,951	T/C	—	uncertain significance
rs782019909	X:147,924,958	G/A	—	likely pathogenic
rs782244962	X:147,924,963	T/C	—	uncertain significance
rs782618037	X:147,967,441	C/G	—	uncertain significance
rs370821602	X:147,967,443	G/T	—	likely benign
rs1263637204	X:147,967,448	G/A	—	uncertain significance
rs1365198389	X:147,967,465	G/C	—	uncertain significance
rs143278161	X:147,967,486	A/G	—	likely benign
rs138980868	X:147,967,509	C/G	—	benign
rs2521705079	X:147,985,793	G/A	—	uncertain significance
rs1352738950	X:148,035,100	T/G	—	likely benign
rs1603347355	X:148,035,116	C/T	—	likely benign
rs782601167	X:148,035,136	C/G	—	uncertain significance
rs782182585	X:148,035,156	G/A	—	uncertain significance
rs145907183	X:148,035,157	G/C	—	uncertain significance
rs1057523435	X:148,035,172	C/T	—	uncertain significance
rs782268933	X:148,035,179	A/T	—	uncertain significance
rs2071997289	X:148,035,199	C/T	—	uncertain significance
rs12011040	X:148,035,200	G/A	—	benign
rs2521881558	X:148,035,223	C/T	—	uncertain significance

Showing 100 of 251 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.