rs139688166

This variant is located in the SETD1A gene.

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ClinVar annotation

Likely Benign

1 submitter

SETD1A-related disorder

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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