rs996643545

This variant is located in the CHN1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter

Duane retraction syndrome 2

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About CHN1

This gene encodes GTPase-activating protein for ras-related p21-rac and a phorbol ester receptor. It is predominantly expressed in neurons, and plays an important role in neuronal signal-transduction mechanisms. Mutations in this gene are associated with Duane's retraction syndrome 2 (DURS2). Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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