rs2135598089
This variant is located in the SUFU gene.
▶ClinVar annotation
Uncertain Significance★★★☆
2 submitters1 publicationMedulloblastoma;Gorlin syndrome; Hereditary cancer-predisposing syndrome
View on ClinVar →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]
View all SUFU variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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