rs376048873

This variant is located in the ANKS6 gene.

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ClinVar annotation

Likely Benign★★★☆
2 submitters2 publications

Nephronophthisis 16

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About ANKS6

This gene encodes a protein containing multiple ankyrin repeats and a SAM domain. It is thought that this protein may localize to the proximal region of the primary cilium, and may play a role in renal and cardiovascular development. Mutations in this gene have been shown to cause a form of nephronophthisis (NPHP16), a chronic tubulo-interstitial nephritis. [provided by RefSeq, Jul 2015]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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