AFF3

ALF transcription elongation factor 3

Summary

This gene encodes a tissue-restricted nuclear transcriptional activator that is preferentially expressed in lymphoid tissue. Isolation of this protein initially defined a highly conserved LAF4/MLLT2 gene family of nuclear transcription factors that may function in lymphoid development and oncogenesis. In some ALL patients, this gene has been found fused to the gene for MLL. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants169 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1575330991	2:100,170,788	C/T	—	uncertain significance
rs757906287	2:100,170,816	G/A	—	likely benign
rs141110020	2:100,170,858	C/T	—	likely benign
rs1374529051	2:100,170,892	A/T	—	uncertain significance
rs756690263	2:100,170,917	C/T	—	likely benign
rs143764541	2:100,170,944	C/T	—	uncertain significance
rs2545772553	2:100,170,965	T/G	—	uncertain significance
rs200197052	2:100,170,983	G/C	—	uncertain significance
rs542558981	2:100,171,158	C/G	—	uncertain significance
rs2545776323	2:100,171,193	T/C	—	uncertain significance
rs1036133464	2:100,175,376	G/C	—	uncertain significance
rs555484972	2:100,176,863	T/C	—	uncertain significance
rs778979887	2:100,176,891	T/C	—	uncertain significance
rs1675878628	2:100,182,001	T/C	—	uncertain significance
rs2545867642	2:100,182,009	T/C	—	no classification for the single variant
rs2545868023	2:100,182,025	C/A	—	uncertain significance
rs2104667844	2:100,185,331	G/A	—	uncertain significance
rs144369599	2:100,190,907	C/T	intron variant	—
rs142157056	2:100,194,797	G/A	—	benign
rs114030857	2:100,194,846	G/C	—	benign
rs752482037	2:100,194,851	C/T	—	likely benign
rs756186388	2:100,194,868	G/C	—	uncertain significance
rs199884902	2:100,199,274	C/T	—	conflicting classifications of pathogenicity
rs147254758	2:100,199,287	C/T	—	benign
rs117712488	2:100,199,386	G/C	—	uncertain significance
rs190577667	2:100,199,424	G/A	—	uncertain significance
rs762249338	2:100,199,466	A/G	—	likely benign
rs186937286	2:100,203,611	C/T	—	benign
rs1173629175	2:100,203,658	C/T	—	likely benign
rs999156963	2:100,203,683	A/G	—	uncertain significance
rs2546051419	2:100,203,698	C/T	—	uncertain significance
rs375097034	2:100,203,708	C/G	—	uncertain significance
rs766957717	2:100,203,710	T/C	—	uncertain significance
rs137896821	2:100,203,725	C/T	—	uncertain significance
rs549276799	2:100,203,732	G/A	—	likely benign
rs370117202	2:100,209,662	G/C	—	uncertain significance
rs897323624	2:100,209,721	G/A	—	uncertain significance
rs200425747	2:100,209,816	T/C	—	likely benign
rs780306052	2:100,209,921	G/A	—	likely benign
rs772272245	2:100,209,947	T/A	—	uncertain significance
rs148703034	2:100,209,989	C/T	—	likely benign
rs769638066	2:100,210,024	G/A	—	uncertain significance
rs2546097172	2:100,210,057	G/C	—	uncertain significance
rs201768114	2:100,210,061	A/C	—	uncertain significance
rs750084980	2:100,210,062	C/T	—	likely benign
rs1047281	2:100,210,074	G/A	—	likely benign
rs2546098751	2:100,210,141	T/C	—	uncertain significance
rs942109412	2:100,210,202	G/C	—	uncertain significance
rs1330611030	2:100,210,279	C/T	—	uncertain significance
rs2546102176	2:100,210,289	C/A	—	uncertain significance
rs577355287	2:100,210,307	C/T	—	uncertain significance
rs768129401	2:100,210,312	C/T	—	uncertain significance
rs1558618600	2:100,210,335	G/A	—	likely benign
rs769535841	2:100,210,354	C/T	—	uncertain significance
rs1464909036	2:100,210,375	G/C	—	uncertain significance
rs771387532	2:100,210,401	G/A	—	likely benign
rs2546106419	2:100,210,423	A/G	—	uncertain significance
rs150835223	2:100,210,434	C/T	—	benign
rs2546107085	2:100,210,440	G/C	—	likely benign
rs149330691	2:100,210,458	G/A	—	likely benign
rs763118251	2:100,210,470	G/A	—	likely benign
rs754626263	2:100,210,494	T/C	—	likely benign
rs2546109966	2:100,210,555	A/G	—	uncertain significance
rs760559169	2:100,210,577	G/A	—	uncertain significance
rs1679050078	2:100,210,603	C/T	—	uncertain significance
rs2546110903	2:100,210,605	G/T	—	uncertain significance
rs140115275	2:100,210,625	C/A	—	conflicting classifications of pathogenicity
rs146863005	2:100,210,649	C/T	—	uncertain significance
rs2546111960	2:100,210,651	G/A	—	uncertain significance
rs2546112753	2:100,210,687	T/A	—	uncertain significance
rs2546112780	2:100,210,691	G/C	—	uncertain significance
rs756496394	2:100,210,694	G/T	—	uncertain significance
rs2546113132	2:100,210,728	C/T	—	likely benign
rs369764382	2:100,210,751	C/T	—	conflicting classifications of pathogenicity
rs3792130	2:100,214,615	C/T	—	—
rs754218099	2:100,217,890	C/T	—	likely benign
rs1037961125	2:100,217,899	C/G	—	uncertain significance
rs200146886	2:100,217,900	G/A	—	likely benign
rs761561601	2:100,217,930	C/G	—	uncertain significance
rs1383264450	2:100,217,938	C/T	—	uncertain significance
rs202019958	2:100,217,960	C/T	—	likely benign
rs2546185899	2:100,218,005	G/T	—	uncertain significance
rs771811951	2:100,218,006	C/G	—	uncertain significance
rs1679836893	2:100,218,007	T/G	—	uncertain significance
rs149711835	2:100,218,071	C/T	—	likely benign
rs4851214	2:100,218,080	A/G	—	benign
rs754994482	2:100,218,086	G/A	—	uncertain significance
rs77826402	2:100,251,389	C/A	—	—
rs4850906	2:100,254,802	A/T	—	—
rs768916827	2:100,266,102	G/A	—	likely benign
rs566358991	2:100,266,838	T/G	—	—
rs4851221	2:100,280,022	G/C	—	—
rs1232476839	2:100,289,035	G/A	—	uncertain significance
rs373928778	2:100,294,437	C/T	—	—
rs6715849	2:100,306,378	A/C	—	—
rs77179555	2:100,309,124	C/G	intron variant	—
rs960285071	2:100,316,461	G/C	—	uncertain significance
rs139803736	2:100,323,603	C/A	—	likely benign
rs2466761007	2:100,343,538	C/T	—	uncertain significance
rs2466761798	2:100,343,558	T/C	—	uncertain significance

Showing 100 of 169 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.