rs11557014
This variant is located in the AQP2 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout 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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