rs886041668

This is a variant in the STXBP1 gene that changes a serine to an proline.

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ClinVar annotation

Pathogenic★☆☆☆
3 submitters2 publications

Early infantile epileptic encephalopathy with suppression bursts (EIEE); Infantile epilepsy syndrome

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About STXBP1

This gene encodes a syntaxin-binding protein. The encoded protein appears to play a role in release of neurotransmitters via regulation of syntaxin, a transmembrane attachment protein receptor. Mutations in this gene have been associated with infantile epileptic encephalopathy-4. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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