rs1047721769
This variant is located in the SLC2A1 gene.
▶ClinVar annotation
Uncertain Significance★☆☆☆
1 submitter1 publicationGLUT1 deficiency syndrome 1, autosomal recessive
View on ClinVar →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]
View all SLC2A1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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