rs781977651

This variant is located in the C12orf57 gene.

ClinVar annotation

Likely Benign☆☆☆
1 submitter1 publication

Temtamy syndrome

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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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