rs762897089

This variant is located in the SLC25A22 gene.

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ClinVar annotation

Uncertain Significance★★★☆
4 submitters2 publications

Developmental and epileptic encephalopathy; not provided; Inborn genetic diseases; Developmental and epileptic encephalopathy, 3

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About SLC25A22

This gene encodes a mitochondrial glutamate carrier. Mutations in this gene are associated with early infantile epileptic encephalopathy. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jul 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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