rs185891628

This variant is located in the SLC2A1 gene.

ClinVar annotation

Benign☆☆☆
1 submitter

Dystonia 9; Encephalopathy due to GLUT1 deficiency

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About SLC2A1

This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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