rs1973282772

This variant is located in the SLC13A5 gene.

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ClinVar annotation

Likely Benign★☆☆☆
1 submitter1 publication

Developmental and epileptic encephalopathy, 25

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About SLC13A5

This gene encodes a protein belonging to the solute carrier family 13 group of proteins. This family member is a sodium-dependent citrate cotransporter that may regulate metabolic processes. Mutations in this gene cause early infantile epileptic encephalopathy 25. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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