rs146222689

This variant is located in the CCBE1 gene.

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ClinVar annotation

Likely Benign★☆☆☆
1 submitter

Hennekam lymphangiectasia-lymphedema syndrome 1

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About CCBE1

This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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