rs2490728083

This variant is located in the SLC31A1 gene.

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ClinVar annotation

Pathogenic
1 submitter1 publication

Neurodegeneration and seizures due to copper transport defect

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About SLC31A1

The protein encoded by this gene is a high-affinity copper transporter found in the cell membrane. The encoded protein functions as a homotrimer to effect the uptake of dietary copper. [provided by RefSeq, Aug 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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