rs1201389480

This variant is located in the SEZ6L2 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

not specified

About SEZ6L2

This gene encodes a seizure-related protein that is localized on the cell surface. The gene is located in a region of chromosome 16p11.2 that is thought to contain candidate genes for autism spectrum disorders (ASD), though there is no evidence directly implicating this gene in ASD. Increased expression of this gene has been found in lung cancers, and the protein is therefore considered to be a novel prognostic marker for lung cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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