STX11 T277A - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

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STX11 T277A

(STX11 Thr277Ala)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • G @ chr6:144508593: 4.3% (461/10754) in EVS
  • G @ chr6:144550285: 1.6% (2/124) in GET-Evidence
  • Frequency shown in summary reports: 4.3% (461/10754)



GS18501 - var-GS18501-1100-36-ASM
het G @ chr6:144550286


GS18517 - var-GS18517-1100-36-ASM
het G @ chr6:144550286


Other external references

  • rs9496891
  • GeneTests records for the STX11 gene
    Familial Hemophagocytic Lymphohistiocytosis
    Familial Hemophagocytic Lymphohistiocytosis 4
    Web search results (1 hit -- see all)
  • SNP link
    01 secretion machinery core component genes. 1 SNAP23. SNAP23. no cSNPs. on synaptic ... snp_ref.cgi?rs=17073498. Y. Y. STX11. 9496891. T277A. HapMap: no variation ...

Other in silico analyses

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 4

Edit history

Gene search

"GENE" or "GENE A123C":

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