Gene entry
EHMT1
euchromatic histone lysine methyltransferase 1
- Chromosome
- 9
- Cytoband
- 9q34.3
- Variants (rsID)
- 40
EHMT1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 9 (region 9q34.3). Its official name is “euchromatic histone lysine methyltransferase 1”. The reference table lists 40 variants (rsID) for this gene.
Clinically classified variants
10 reference-table entries with clinical significance.
- rs143669310Benignsingle nucleotide variantKleefstra syndrome 1
- rs199839806Benignsingle nucleotide variantKleefstra syndrome 1|History of neurodevelopmental disorder
- rs144085805Conflicting interpretationssingle nucleotide variantKleefstra syndrome 1|History of neurodevelopmental disorder
- rs146125583Conflicting interpretationssingle nucleotide variantKleefstra syndrome 1
- rs202066668Conflicting interpretationssingle nucleotide variantKleefstra syndrome 1
- rs398124404Conflicting interpretationssingle nucleotide variantKleefstra syndrome 1
- rs398124407Conflicting interpretationssingle nucleotide variantKleefstra syndrome 1
- rs565065320Conflicting interpretationssingle nucleotide variantKleefstra syndrome 1|History of neurodevelopmental disorder
- rs786205129PathogenicMicrosatelliteKleefstra syndrome 1
- rs879255531Pathogenicsingle nucleotide variantKleefstra syndrome 1
Other listed variants
- rs2501567
- rs2987621
- rs3934533
- rs4487855
- rs6559221
- rs10119023
- rs10732688
- rs11137154
- rs11137242
- rs11791658
- rs11792069
- rs34390775
- rs59672293
- rs62590245
- rs76170646
- rs79695880
- rs116865530
- rs116938910
- rs116991405
- rs117302644
- rs117409313
- rs117590310
- rs117732692
- rs118182530
- rs142083177
- rs148334056
- rs151025316
- rs190760718
- rs201749914
- rs371450176
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.