rs2486808318

This variant is located in the ASH2L gene.

▶

ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About ASH2L

Enables beta-catenin binding activity and transcription cis-regulatory region binding activity. Involved in positive regulation of cell population proliferation; response to estrogen; and transcription initiation-coupled chromatin remodeling. Acts upstream of or within DNA damage response. Located in nucleus. Part of MLL1 complex; MLL3/4 complex; and Set1C/COMPASS complex. [provided by Alliance of Genome Resources, Jul 2025]

View all ASH2L variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…