rs1050351

This is a synonymous variant in the SLC19A1 gene — it does not change the protein's amino acid sequence.

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ClinVar annotation

Benign★★★☆
8 submitters2 publications

Hereditary glaucoma, primary closed-angle; Knobloch syndrome (KNO); not specified

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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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