rs143986534

This variant is located in the ASH1L gene.

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ClinVar annotation

Likely Benign

1 submitter

ASH1L-related disorder

About ASH1L

This gene encodes a member of the trithorax group of transcriptional activators. The protein contains four AT hooks, a SET domain, a PHD-finger motif, and a bromodomain. It is localized to many small speckles in the nucleus, and also to cell-cell tight junctions. [provided by RefSeq, Jul 2008]

View all ASH1L variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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