rs1283005538

This variant is located in the SLC38A3 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Inborn genetic diseases

About SLC38A3

Enables L-amino acid transmembrane transporter activity. Involved in carboxylic acid transport. Located in plasma membrane. Implicated in developmental and epileptic encephalopathy 102. [provided by Alliance of Genome Resources, Jul 2025]

View all SLC38A3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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