rs879255280

This is a variant in the SMO gene that changes a leucine to an phenylalanine.

ClinVar annotation

Pathogenic☆☆☆
4 submitters15 publications

Curry-Jones syndrome (CRJS)

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About SMO

The protein encoded by this gene is a G protein-coupled receptor that interacts with the patched protein, a receptor for hedgehog proteins. The encoded protein tranduces signals to other proteins after activation by a hedgehog protein/patched protein complex. [provided by RefSeq, Jul 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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