rs1057518766

This is a variant in the SLC19A1 gene that changes a glycine to an serine.

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ClinVar annotation

Pathogenic★☆☆☆
3 submitters3 publications

COL18A1-related disorder; Hereditary glaucoma, primary closed-angle; Progressive neurodegenerative disease

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About SLC19A1

The membrane protein encoded by this gene is a transporter of folate and is involved in the regulation of intracellular concentrations of folate. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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