rs3742719

This variant is located in the TRIP11 gene.

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ClinVar annotation

Benign★★★☆
8 submitters2 publications

not specified; Achondrogenesis, type IA; not provided; Connective tissue disorder; Melanoma; Acute myeloid leukemia; Uterine corpus endometrial carcinoma; Sarcoma; Cervical cancer; Uterine carcinosarcoma; Cholangiocarcinoma; Malignant tumor of esophagus

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About TRIP11

This gene was identified based on the interaction of its protein product with thyroid hormone receptor beta. This protein is associated with the Golgi apparatus. The N-terminal region of the protein binds Golgi membranes and the C-terminal region binds the minus ends of microtubules; thus, the protein is thought to play a role in assembly and maintenance of the Golgi ribbon structure around the centrosome. Mutations in this gene cause achondrogenesis type IA.[provided by RefSeq, Mar 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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