rs1690470511
This variant is located in the SLC25A12 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout SLC25A12
This gene encodes a calcium-binding mitochondrial carrier protein. The encoded protein localizes to the mitochondria and is involved in the exchange of aspartate for glutamate across the inner mitochondrial membrane. Polymorphisms in this gene may be associated with autism, and mutations in this gene may also be a cause of global cerebral hypomyelination. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Apr 2012]
View all SLC25A12 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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