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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

STX11 T277A

(STX11 Thr277Ala)


Short summary

 

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

Impact

Insufficiently evaluated not reviewed

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

Inheritance pattern

unknown

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)

Publications
 

Genomes
 

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

 

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

 

Other external references
 

    dbSNP
  • rs9496891
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the STX11 gene
    Familial Hemophagocytic Lymphohistiocytosis
    Familial Hemophagocytic Lymphohistiocytosis 4
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/STX11
    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 ...
    www.cncr.vu.nl/presynaptic_SNPs.pdf

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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