rs431905512

This is a variant in the STX11 gene that changes a leucine to an proline.

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ClinVar annotation

Pathogenic★★★☆
7 submitters5 publications

Familial hemophagocytic lymphohistiocytosis (FHL); Familial hemophagocytic lymphohistiocytosis 4 (FHL4)

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About STX11

This gene encodes a member of the syntaxin family. Syntaxins have been implicated in the targeting and fusion of intracellular transport vesicles. This family member may regulate protein transport among late endosomes and the trans-Golgi network. Mutations in this gene have been associated with familial hemophagocytic lymphohistiocytosis. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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