rs2095906404

This variant is located in the SPI1 gene.

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ClinVar annotation

Likely Pathogenic★☆☆☆

2 submitters2 publications

PU.1-mutated agammaglobulinemia; Agammaglobulinemia 10, autosomal dominant; Agammaglobulinemia

About SPI1

This gene encodes an ETS-domain transcription factor that activates gene expression during myeloid and B-lymphoid cell development. The nuclear protein binds to a purine-rich sequence known as the PU-box found near the promoters of target genes, and regulates their expression in coordination with other transcription factors and cofactors. The protein can also regulate alternative splicing of target genes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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