rs766514307

This variant is located in the EML4 gene.

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter

not specified

About EML4

This gene is a member of the echinoderm microtubule associated protein-like family. The encoded WD-repeat protein may be involved in microtubule formation. Abnormal fusion of parts of this gene with portions of the anaplastic lymphoma receptor tyrosine kinase gene, which generates EML4-ALK fusion transcripts, is one of the primary mutations associated with non-small cell lung cancer. Alternative splicing of this gene results in two transcript variants. [provided by RefSeq, Jan 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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