rs186839290

This variant is located in the SLC6A20 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Hyperglycinuria

About SLC6A20

Transport of small hydrophilic substances across cell membranes is mediated by substrate-specific transporter proteins which have been classified into several families of related genes. The protein encoded by this gene belongs to the sodium:neurotransmitter symporter (SNF) family and functions as a proline transporter expressed in kidney and small intestine. Mutations in this gene are associated with Hyperglycinuria and Iminoglycinuria. [provided by RefSeq, Jul 2020]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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