rs13306560

This is a regulatory region variant variant in the CLCN6 gene.

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ClinVar annotation

Benign★☆☆☆
2 submitters2 publications

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

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About CLCN6

This gene encodes a member of the voltage-dependent chloride channel protein family. Members of this family can function as either chloride channels or antiporters. This protein is primarily localized to late endosomes and functions as a chloride/proton antiporter. Alternate splicing results in both coding and non-coding variants. Additional alternately spliced variants have been described but their full-length structure is unknown. [provided by RefSeq, Mar 2012]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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