Gene entry
DNMT3A
DNA methyltransferase 3 alpha
- Chromosome
- 2
- Cytoband
- 2p23.3
- Variants (rsID)
- 34
DNMT3A is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2p23.3). Its official name is “DNA methyltransferase 3 alpha”. The reference table lists 34 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs144689354Conflicting interpretationssingle nucleotide variantTall stature-intellectual disability-facial dysmorphism syndrome
- rs147001633Pathogenicsingle nucleotide variantAcute myeloid leukemia
- rs2276598Not classifiedsynonymous_variantTransposition of the Great Arteries, Dextro-Looped
Other listed variants
- rs749130
- rs1550117
- rs2289093
- rs2289195
- rs2304429
- rs4283373
- rs6711622
- rs7560488
- rs7583409
- rs7594432
- rs11694842
- rs12987326
- rs12995968
- rs13401241
- rs13428812
- rs72810052
- rs72810074
- rs74973550
- rs75576812
- rs75781902
- rs76050618
- rs76201988
- rs76240476
- rs77318651
- rs77852788
- rs78720491
- rs79333016
- rs79905295
- rs115247108
- rs192553939
- rs201882909
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.