STX11 Chromosome 6
Syntaxin 11
Upload your DNA to see your personal genotypes for variants in STX11.
What This Gene Does
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]
Gene Info
Gene Group
Syntaxins
Locus Type
gene with protein product
Location
6q24.2
Ensembl
ENSG00000135604
Associated Conditions (5)
Familial hemophagocytic lymphohistiocytosis 4
Inborn genetic diseases
Autoinflammatory syndrome
STX11-related disorder
Familial hemophagocytic lymphohistiocytosis
Key Variants
RS141487068
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 4, Inborn genetic diseases, Familial hemophagocytic lymphohistiocytosis 4
Health Risk
RS141499372
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 4, Autoinflammatory syndrome, STX11-related disorder
Health Risk
RS145347140
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis
Health Risk
RS145774130
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 4, STX11-related disorder, Familial hemophagocytic lymphohistiocytosis 4
Health Risk
RS147525157
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4
Health Risk
RS148354227
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4
Health Risk
RS149176821
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4
Health Risk
RS34282765
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4
Health Risk
RS34470310
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 4, Inborn genetic diseases, Familial hemophagocytic lymphohistiocytosis 4
Health Risk
RS540150447
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 4, Autoinflammatory syndrome, STX11-related disorder
Health Risk
RS574127091
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 4, Inborn genetic diseases, Familial hemophagocytic lymphohistiocytosis 4
Health Risk
RS774895225
Conflicting classifications of pathogenicity
Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4
Health Risk
All Variants (39)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141487068 | Health Risk | Conflicting classifications of pathogenicity | Familial hemophagocytic lymphohistiocytosis 4, Inborn genetic diseases, Familial hemophagocytic lymphohistiocytosis 4 |
| RS141499372 | Health Risk | Conflicting classifications of pathogenicity | Familial hemophagocytic lymphohistiocytosis 4, Autoinflammatory syndrome, STX11-related disorder |
| RS145347140 | Health Risk | Conflicting classifications of pathogenicity | Familial hemophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis |
| RS145774130 | Health Risk | Conflicting classifications of pathogenicity | Familial hemophagocytic lymphohistiocytosis 4, STX11-related disorder, Familial hemophagocytic lymphohistiocytosis 4 |
| RS147525157 | Health Risk | Conflicting classifications of pathogenicity | Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4 |
| RS148354227 | Health Risk | Conflicting classifications of pathogenicity | Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4 |
| RS149176821 | Health Risk | Conflicting classifications of pathogenicity | Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4 |
| RS34282765 | Health Risk | Conflicting classifications of pathogenicity | Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4 |
| RS34470310 | Health Risk | Conflicting classifications of pathogenicity | Familial hemophagocytic lymphohistiocytosis 4, Inborn genetic diseases, Familial hemophagocytic lymphohistiocytosis 4 |
| RS540150447 | Health Risk | Conflicting classifications of pathogenicity | Familial hemophagocytic lymphohistiocytosis 4, Autoinflammatory syndrome, STX11-related disorder |
| RS574127091 | Health Risk | Conflicting classifications of pathogenicity | Familial hemophagocytic lymphohistiocytosis 4, Inborn genetic diseases, Familial hemophagocytic lymphohistiocytosis 4 |
| RS774895225 | Health Risk | Conflicting classifications of pathogenicity | Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4 |
| RS1446340815 | Health Risk | Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4 |
| RS1554294339 | Health Risk | Likely pathogenic | — |
| RS2533800980 | Health Risk | Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4 |
| RS2533801834 | Health Risk | Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4 |
| RS2533803639 | Health Risk | Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4 |
| RS2533803743 | Health Risk | Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4 |
| RS2533806916 | Health Risk | Likely pathogenic | Familial hemophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis |
| RS765287715 | Health Risk | Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4 |
| RS770563158 | Health Risk | Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4 |
| RS104893996 | Health Risk | Pathogenic | Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4 |
| RS1184467972 | Health Risk | Pathogenic | Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4 |
| RS1317576992 | Health Risk | Pathogenic | Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4 |
| RS1554294422 | Health Risk | Pathogenic | — |
| RS1584062332 | Health Risk | Pathogenic | Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4 |
| RS2128757192 | Health Risk | Pathogenic | Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4 |
| RS2533798819 | Health Risk | Pathogenic | Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4 |
| RS2533803043 | Health Risk | Pathogenic | Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4 |
| RS431905512 | Health Risk | Pathogenic | Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis 4 |
| RS483352901 | Health Risk | Pathogenic | Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4 |
| RS754223770 | Health Risk | Pathogenic | Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4 |
| RS758032054 | Health Risk | Pathogenic | Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4 |
| RS902066692 | Health Risk | Pathogenic | Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4 |
| RS1013453454 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4 |
| RS1292608555 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4 |
| RS143547259 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4 |
| RS2533804808 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4 |
| RS794729649 | Health Risk | Pathogenic/Likely pathogenic | Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4 |