rs376752468

This variant is located in the SUFU gene.

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ClinVar annotation

Likely Benign★★★☆
5 submitters2 publications

Medulloblastoma;Gorlin syndrome; Hereditary cancer-predisposing syndrome; not provided; not specified

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About SUFU

The Hedgehog signaling pathway plays an important role in early human development. The pathway is a signaling cascade that plays a role in pattern formation and cellular proliferation during development. This gene encodes a negative regulator of the hedgehog signaling pathway. Defects in this gene are a cause of medulloblastoma. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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