rs11242308

This variant is located in the TGFBI gene.

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ClinVar annotation

Benign★★★☆
3 submitters1 publication

Corneal dystrophy; not provided; Colon adenocarcinoma; Colorectal cancer; Uterine carcinosarcoma; Thymoma; Hepatocellular carcinoma; Clear cell carcinoma of kidney; Malignant tumor of esophagus; Cervical cancer; Uterine corpus endometrial carcinoma; Malignant lymphoma, large B-cell, diffuse; Lung cancer; Ovarian cancer

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About TGFBI

This gene encodes an RGD-containing protein that binds to type I, II and IV collagens. The RGD motif is found in many extracellular matrix proteins modulating cell adhesion and serves as a ligand recognition sequence for several integrins. This protein plays a role in cell-collagen interactions and may be involved in endochondrial bone formation in cartilage. The protein is induced by transforming growth factor-beta and acts to inhibit cell adhesion. Mutations in this gene are associated with multiple types of corneal dystrophy. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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