rs1945470904

This variant is located in the CNTN1 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆
1 submitter1 publication

Compton-North congenital myopathy

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About CNTN1

The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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