rs2228617

This is a synonymous variant in the SMO gene — it does not change the protein's amino acid sequence.

ClinVar annotation

Benign★★★
4 submitters2 publications

Hamartoma of hypothalamus; not specified

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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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