rs183409730

This variant is located in the SLC25A22 gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters1 publication

not provided; Early-infantile DEE

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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]

View all SLC25A22 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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