rs928204245

This variant is located in the WDR72 gene.

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ClinVar annotation

Uncertain Significance★☆☆☆

1 submitter

Amelogenesis imperfecta hypomaturation type 2A3

About WDR72

This gene encodes a protein with eight WD-40 repeats. Mutations in this gene have been associated with amelogenesis imperfecta hypomaturation type 2A3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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