rs114450435

This variant is located in the EXOC6B gene.

ClinVar annotation

Benign★★★
2 submitters2 publications
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About EXOC6B

This gene encodes a protein which is a part of the evolutionarily conserved exocyst, a multimeric protein complex necessary for exocytosis, which in turn, is crucial for cell growth, polarity and migration. Disruption of this gene may be associated with phenotypes exhibiting multiple symptoms including intellectual disability and developmental delay (DD). [provided by RefSeq, Jun 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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