rs869312864

This is a variant in the SLC25A16 gene that changes a arginine to an cysteine.

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ClinVar annotation

Pathogenic★☆☆☆
1 submitter1 publication

Cerebral visual impairment and intellectual disability

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About SLC25A16

This gene encodes a protein that contains three tandemly repeated mitochondrial carrier protein domains. The encoded protein is localized in the inner membrane and facilitates the rapid transport and exchange of molecules between the cytosol and the mitochondrial matrix space. This gene has a possible role in Graves' disease. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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