rs16920147

This variant is located in the TDRD7 gene.

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ClinVar annotation

Benign★★★☆
5 submitters2 publications

not specified; not provided; Cataract 36; Gastric cancer; Lung cancer; Cervical cancer; Sarcoma; Malignant tumor of esophagus

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About TDRD7

The protein encoded by this gene belongs to the Tudor family of proteins. This protein contains conserved Tudor domains and LOTUS domains. It is a component of RNA granules, which function in RNA processing. Mutations in this gene have been associated with cataract formation in mouse and human. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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