Gene entry
STXBP2
syntaxin binding protein 2
- Chromosome
- 19
- Cytoband
- 19p13.2
- Variants (rsID)
- 11
STXBP2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 19 (region 19p13.2). Its official name is “syntaxin binding protein 2”. The reference table lists 11 variants (rsID) for this gene.
Clinically classified variants
7 reference-table entries with clinical significance.
- rs141309384Benignsingle nucleotide variantFamilial hemophagocytic lymphohistiocytosis 5|Autoinflammatory syndrome
- rs1862514Benignsingle nucleotide variant
- rs34450592Conflicting interpretationssingle nucleotide variantFamilial hemophagocytic lymphohistiocytosis|Familial hemophagocytic lymphohistiocytosis 5|Autoinflammatory syndrome
- rs121918541Pathogenicsingle nucleotide variantHEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5, WITHOUT MICROVILLUS INCLUSION DISEASE
- rs61736587Pathogenicsingle nucleotide variantFamilial hemophagocytic lymphohistiocytosis 5|Autoinflammatory syndrome
- rs200855062Uncertain significancesingle nucleotide variantFamilial hemophagocytic lymphohistiocytosis 5
- rs201481880Uncertain significancesingle nucleotide variantFamilial hemophagocytic lymphohistiocytosis 5
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.