rs377325319
This variant is located in the SETD1A gene.
▶ClinVar annotation
Inborn genetic diseases; Epilepsy, early-onset, with or without developmental delay
View on ClinVar →About SETD1A
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]
View all SETD1A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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