rs147650138

This variant is located in the ITGB6 gene.

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ClinVar annotation

Benign★☆☆☆

2 submitters1 publication

not provided; ITGB6-related disorder

About ITGB6

This gene encodes a protein that is a member of the integrin superfamily. Members of this family are adhesion receptors that function in signaling from the extracellular matrix to the cell. Integrins are heterodimeric integral membrane proteins composed of an alpha chain and a beta chain. The encoded protein forms a dimer with an alpha v chain and this heterodimer can bind to ligands like fibronectin and transforming growth factor beta 1. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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