rs147094247

This is a variant in the SH2B1 gene that changes a threonine to an asparagine.

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ClinVar annotation

Uncertain Significance★★★☆

4 submitters6 publications

SH2B1-related disorder; not specified

About SH2B1

This gene encodes a member of the SH2-domain containing mediators family. The encoded protein mediates activation of various kinases and may function in cytokine and growth factor receptor signaling and cellular transformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

View all SH2B1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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