rs201683994

This variant is located in the WASF3 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About WASF3

This gene encodes a member of the Wiskott-Aldrich syndrome protein family. The gene product is a protein that forms a multiprotein complex that links receptor kinases and actin. Binding to actin occurs through a C-terminal verprolin homology domain in all family members. The multiprotein complex serves to tranduce signals that involve changes in cell shape, motility or function. A pseudogene of this gene have been defined on chromosome 6. Alternative splicing results in multiple transcript variants [provided by RefSeq, May 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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