Gene entry
SETD2
SET domain containing 2, histone lysine methyltransferase
- Chromosome
- 3
- Cytoband
- 3p21.31
- Variants (rsID)
- 20
SETD2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3p21.31). Its official name is “SET domain containing 2, histone lysine methyltransferase”. The reference table lists 20 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs76208147Benignsingle nucleotide variantLuscan-Lumish syndrome
- rs78759480Benignsingle nucleotide variantLuscan-Lumish syndrome
- rs115859828Conflicting interpretationssingle nucleotide variantLuscan-Lumish syndrome
- rs141847082Uncertain significancesingle nucleotide variantLuscan-Lumish syndrome
- rs189529024Uncertain significancesingle nucleotide variantLuscan-Lumish syndrome
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.