rs587776954

This is a variant in the C12orf57 gene that changes a methionine to an valine.

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ClinVar annotation

Pathogenic★★★☆
20 submitters13 publications

Abnormal corpus callosum morphology; Global developmental delay (DD); Microphthalmia, isolated, with coloboma; Seizure; Temtamy syndrome (TEMTYS)

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About C12orf57

This gene is ubiquitously expressed in human tissues. It is required for development of the human corpus callosum. Mutations in this gene are associated with Temtamy syndrome (TEMTYS). Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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