SETD1A

SET domain containing 1A, histone lysine methyltransferase

Summary

The protein encoded by this gene is a component of a histone methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at Lys4. Trimethylation of histone H3 at lysine 4 (H3K4me3) is a chromatin modification known to generally mark the transcription start sites of active genes. The protein contains SET domains, a RNA recognition motif domain and is a member of the class V-like SAM-binding methyltransferase superfamily. [provided by RefSeq, Dec 2016]

Known Variants359 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1164387216:30,969,486G/C——
rs6205586616:30,969,557G/Cregulatory region variant—
rs254383167216:30,970,059C/T—likely pathogenic
rs76856992616:30,970,086G/A—uncertain significance
rs140183295416:30,970,094C/G—uncertain significance
rs205600375016:30,970,098C/T—likely pathogenic
rs118749772416:30,970,154G/A—likely benign
rs74791706016:30,970,155C/T—likely benign
rs97541909116:30,970,156C/T—uncertain significance
rs13968816616:30,970,190C/T—likely benign
rs254383350016:30,970,410A/G—likely pathogenic
rs74910788516:30,970,424A/G—uncertain significance
rs74556480116:30,970,439C/A—uncertain significance
rs74854704916:30,970,450C/T—likely benign
rs254383371616:30,970,451C/T—conflicting classifications of pathogenicity
rs254383373016:30,970,455G/A—uncertain significance
rs94128891616:30,970,466T/A—uncertain significance
rs77470832516:30,970,476G/T—uncertain significance
rs205601119116:30,970,481T/G—uncertain significance
rs88689434716:30,970,485C/T—uncertain significance
rs116279149416:30,970,511A/G—uncertain significance
rs254384113216:30,972,586A/C—uncertain significance
rs205604871216:30,972,601A/G—uncertain significance
rs37522043716:30,972,684C/T—likely benign
rs76167350916:30,972,736G/A—uncertain significance
rs254384184816:30,972,783G/A—likely pathogenic
rs75228263616:30,972,794G/A—likely benign
rs127256096816:30,972,799A/G—uncertain significance
rs156734989616:30,972,844A/T—uncertain significance
rs18846671916:30,974,744C/T—benign
rs86931282916:30,974,752A/G—pathogenic
rs254384789616:30,974,762C/T—pathogenic
rs140320319716:30,974,845G/T—uncertain significance
rs14644482316:30,974,856C/T—uncertain significance
rs76681924316:30,974,868C/T—uncertain significance
rs20215906716:30,974,874C/T—conflicting classifications of pathogenicity
rs135063208916:30,975,418G/A—conflicting classifications of pathogenicity
rs214348295916:30,975,419A/C—uncertain significance
rs214348298216:30,975,420A/C—uncertain significance
rs103431002816:30,975,425G/A—uncertain significance
rs143714797016:30,975,427C/T—uncertain significance
rs37313036316:30,975,430C/T—conflicting classifications of pathogenicity
rs55027059216:30,975,442G/C—uncertain significance
rs18554361616:30,975,446C/A—uncertain significance
rs52984675016:30,975,470C/T—uncertain significance
rs56156677916:30,975,473C/T—likely benign
rs14587987916:30,975,474G/A—likely benign
rs214348372316:30,975,481A/C—likely benign
rs75836728516:30,975,482C/T—uncertain significance
rs74700768516:30,975,491A/T—uncertain significance
rs20091250116:30,975,492C/T—likely benign
rs19992166416:30,975,493G/A—uncertain significance
rs123809052716:30,975,497C/T—uncertain significance
rs6174441516:30,975,501C/T—likely benign
rs214348417416:30,975,522C/T—likely benign
rs55018361216:30,975,529A/G—likely benign
rs205609955916:30,975,532C/T—pathogenic
rs14808776416:30,975,533G/A—uncertain significance
rs117088373316:30,975,548C/T—uncertain significance
rs75143990716:30,975,558C/T—likely benign
rs205610095116:30,975,581A/G—pathogenic
rs14232794116:30,975,586A/C—uncertain significance
rs14658210516:30,975,596C/T—likely benign
rs254385190616:30,975,637T/C—uncertain significance
rs77123911616:30,975,958C/T—conflicting classifications of pathogenicity
rs205610958816:30,975,979C/G—uncertain significance
rs75382519916:30,975,997C/T—uncertain significance
rs214348829416:30,976,027A/G—uncertain significance
rs36781847116:30,976,036A/G—likely benign
rs205611120916:30,976,051A/G—uncertain significance
rs126603476316:30,976,053C/T—likely benign
rs13867148016:30,976,085C/T—likely benign
rs101690993416:30,976,088C/G—uncertain significance
rs14641637716:30,976,101G/A—likely benign
rs205611263816:30,976,102T/C—uncertain significance
rs36923810416:30,976,110G/T—likely benign
rs102120328516:30,976,127C/T—uncertain significance
rs13911905716:30,976,128G/C—likely benign
rs78045456916:30,976,186C/T—uncertain significance
rs118369866416:30,976,196G/A—uncertain significance
rs74718073616:30,976,208A/G—uncertain significance
rs13985502916:30,976,236A/C—likely benign
rs77187176416:30,976,237C/A—uncertain significance
rs205611612816:30,976,264A/G—uncertain significance
rs14242935616:30,976,274G/A—likely benign
rs15129806316:30,976,302G/A—likely benign
rs78125117216:30,976,303C/A—uncertain significance
rs77880133716:30,976,313C/G—uncertain significance
rs76043370316:30,976,326C/T—likely benign
rs254385560016:30,976,328A/G—uncertain significance
rs86931283016:30,976,335——pathogenic
rs20069707516:30,976,339C/T—likely benign
rs37757677516:30,976,367C/G—uncertain significance
rs254385600516:30,976,383T/A—likely benign
rs205611896416:30,976,385G/C—uncertain significance
rs102115081316:30,976,408C/G—uncertain significance
rs74763723916:30,976,432C/G—uncertain significance
rs54379417216:30,976,433G/A—likely benign
rs37732531916:30,976,444C/T—uncertain significance
rs37124167516:30,976,463G/A—likely benign

Showing 100 of 359 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.