rs769563047
This variant is located in the SLC4A11 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout SLC4A11
This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been associated with a number of endothelial corneal dystrophies including recessive corneal endothelial dystrophy 2, corneal dystrophy and perceptive deafness, and Fuchs endothelial corneal dystrophy. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010]
View all SLC4A11 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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