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STX11

Synonyms
FHL4, HLH4, HPLH4
External resources
Summary
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.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
209
Likely benign
22
Benign
901

Patient Phenotypes

No patients carry pathogenic or likely pathogenic variants on STX11 gene.

Phenotype class
Patients in 3billion (%)

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