rs765571636
This variant is located in the CNNM2 gene.
▶ClinVar annotation
not provided; Inborn genetic diseases
View on ClinVar →About CNNM2
This gene encodes a member of the ancient conserved domain containing protein family. Members of this protein family contain a cyclin box motif and have structural similarity to the cyclins. The encoded protein may play an important role in magnesium homeostasis by mediating the epithelial transport and renal reabsorption of Mg2+. Mutations in this gene are associated with renal hypomagnesemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
View all CNNM2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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