rs201047682

This variant is located in the AQP2 gene.

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ClinVar annotation

Uncertain Significance★★★☆
2 submitters2 publications

not provided; Diabetes insipidus, nephrogenic, autosomal

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About AQP2

This gene encodes a water channel protein located in the kidney collecting tubule. It belongs to the MIP/aquaporin family, some members of which are clustered together on chromosome 12q13. Mutations in this gene have been linked to autosomal dominant and recessive forms of nephrogenic diabetes insipidus. [provided by RefSeq, Oct 2008]

View all AQP2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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