DNMT3A

DNA methyltransferase 3 alpha

Summary

CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase that is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes to the cytoplasm and nucleus and its expression is developmentally regulated. [provided by RefSeq, Mar 2016]

Known Variants579 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs115265285	2:25,452,313	A/G	downstream gene variant	—
rs2164411	2:25,452,906	G/A	downstream gene variant	—
rs13420827	2:25,453,968	C/T	—	—
rs750890038	2:25,457,149	T/C	—	likely benign
rs758985118	2:25,457,157	C/T	—	likely benign
rs1459396018	2:25,457,158	G/A	—	uncertain significance
rs1673065619	2:25,457,161	A/G	—	pathogenic
rs1558650788	2:25,457,165	A/T	—	likely pathogenic
rs538669211	2:25,457,175	C/T	—	likely benign
rs149095705	2:25,457,176	G/A	missense variant	pathogenic
rs1558650888	2:25,457,177	G/A	—	likely pathogenic
rs749167103	2:25,457,180	C/G	—	uncertain significance
rs587777510	2:25,457,182	A/G	missense variant	pathogenic
rs2149252502	2:25,457,184	G/C	—	likely benign
rs61758432	2:25,457,190	G/A	—	likely benign
rs771922296	2:25,457,192	G/A	—	uncertain significance
rs960019580	2:25,457,194	A/G	—	likely pathogenic
rs181757577	2:25,457,199	T/C	—	likely benign
rs765347568	2:25,457,205	G/A	—	likely benign
rs750515748	2:25,457,209	C/T	—	pathogenic
rs763189481	2:25,457,211	T/C	—	conflicting classifications of pathogenicity
rs1673090694	2:25,457,221	A/C	—	uncertain significance
rs755252969	2:25,457,228	T/G	—	likely benign
rs375544980	2:25,457,229	C/T	—	likely benign
rs537647207	2:25,457,235	C/T	—	likely benign
rs1673098777	2:25,457,240	A/G	—	likely benign
rs147001633	2:25,457,242	C/T	missense variant	pathogenic
rs377577594	2:25,457,243	G/A	missense variant	pathogenic
rs934975662	2:25,457,244	G/A	—	likely benign
rs1673107556	2:25,457,258	C/T	—	uncertain significance
rs368516543	2:25,457,259	G/A	—	likely benign
rs992291948	2:25,457,261	C/T	—	uncertain significance
rs1673110832	2:25,457,262	A/G	—	likely benign
rs770134132	2:25,457,265	A/T	—	uncertain significance
rs141606269	2:25,457,286	T/G	—	likely benign
rs766506181	2:25,457,290	C/G	—	likely pathogenic
rs371855601	2:25,457,292	G/A	—	conflicting classifications of pathogenicity
rs756540099	2:25,457,296	G/A	—	likely benign
rs77496230	2:25,457,351	C/T	—	likely benign
rs11695471	2:25,457,708	T/A	intron variant	—
rs34145995	2:25,458,067	T/A	—	—
rs10084238	2:25,458,379	A/G	—	benign
rs115238942	2:25,458,498	A/G	—	likely benign
rs2304429	2:25,458,546	T/C	—	benign
rs1434761129	2:25,458,564	C/A	—	likely benign
rs372146753	2:25,458,569	C/T	—	likely benign
rs1302882446	2:25,458,573	T/C	—	uncertain significance
rs764855628	2:25,458,575	C/T	—	pathogenic
rs376830288	2:25,458,593	C/T	—	pathogenic
rs1673285954	2:25,458,627	G/T	—	uncertain significance
rs2149257629	2:25,458,635	C/T	—	likely benign
rs781139634	2:25,458,637	G/A	—	pathogenic
rs771174392	2:25,458,648	T/C	—	likely pathogenic
rs2465329881	2:25,458,657	G/A	—	uncertain significance
rs1489843853	2:25,458,669	G/A	—	uncertain significance
rs1573297136	2:25,458,678	G/A	—	likely pathogenic
rs775933506	2:25,458,695	C/T	—	likely pathogenic
rs768946915	2:25,458,700	T/C	—	likely benign
rs776966073	2:25,458,701	G/T	—	likely benign
rs1333028940	2:25,458,704	G/A	—	likely benign
rs377534934	2:25,458,709	G/A	—	likely benign
rs79478703	2:25,458,853	G/A	—	benign
rs143620117	2:25,459,792	C/T	—	likely benign
rs375577092	2:25,459,793	G/A	—	likely benign
rs1327946633	2:25,459,803	A/C	—	uncertain significance
rs762213449	2:25,459,804	C/T	—	pathogenic
rs2465341281	2:25,459,809	G/A	—	uncertain significance
rs759187608	2:25,459,837	G/C	—	uncertain significance
rs2465341949	2:25,459,845	A/G	—	uncertain significance
rs2149261310	2:25,459,867	C/T	—	uncertain significance
rs529419548	2:25,459,871	C/G	—	likely benign
rs750597155	2:25,459,872	G/T	—	uncertain significance
rs866917013	2:25,459,875	C/T	—	likely pathogenic
rs147193357	2:25,460,001	C/G	—	likely benign
rs78444080	2:25,460,046	G/A	—	likely benign
rs17046942	2:25,460,127	G/A	—	likely benign
rs182372453	2:25,460,164	A/G	—	likely benign
rs141473447	2:25,461,776	A/G	—	likely benign
rs775429193	2:25,461,985	G/A	—	likely benign
rs1558656994	2:25,462,004	C/T	—	uncertain significance
rs757083492	2:25,462,009	C/T	—	uncertain significance
rs767588813	2:25,462,017	T/C	—	uncertain significance
rs1395575712	2:25,462,022	C/T	—	pathogenic
rs745517428	2:25,462,034	G/A	—	likely benign
rs2149267652	2:25,462,070	C/T	—	uncertain significance
rs758014471	2:25,462,076	A/G	—	likely benign
rs2465366240	2:25,462,080	T/G	—	uncertain significance
rs756261389	2:25,462,100	C/T	—	likely benign
rs778123826	2:25,462,101	G/A	—	likely benign
rs72810046	2:25,462,327	C/G	—	benign
rs79501006	2:25,462,988	A/G	—	benign
rs115956315	2:25,463,053	C/T	—	likely benign
rs903011938	2:25,463,170	C/T	—	pathogenic
rs757823678	2:25,463,181	C/T	—	pathogenic
rs779626155	2:25,463,182	G/A	stop gained	pathogenic
rs143068605	2:25,463,183	C/T	—	likely benign
rs758845779	2:25,463,184	G/A	—	pathogenic
rs1369746569	2:25,463,206	C/T	—	uncertain significance
rs770785915	2:25,463,234	C/T	—	pathogenic
rs754613602	2:25,463,248	G/A	—	pathogenic

Showing 100 of 579 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.