STXBP2 I526V - GET-Evidence

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

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Curation:
Currentness:

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STXBP2 I526V

(STXBP2 Ile526Val)


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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 @ chr19:7712277: 67.5% (7233/10718) in EVS
  • G @ chr19:7618276: 70.3% (90/128) in GET-Evidence
  • Frequency shown in summary reports: 67.5% (7233/10718)

Publications
 

Genomes
 

Added in this revision:

snp-1

 

Other external references
 

    GeneTests
  • GeneTests records for the STXBP2 gene
    Familial Hemophagocytic Lymphohistiocytosis
    Familial Hemophagocytic Lymphohistiocytosis 5
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/STXBP2
    Web search results (2 hits -- see all)
  • SNP link
    01 secretion machinery core component genes. 1 SNAP23. SNAP23. no cSNPs. on synaptic ... ref. 1.8. STXBP2. 6791. I526V. AFD: 0.614. http://www.ncbi.nlm.nih.gov/SNP ...
    www.cncr.nl/presynaptic_SNPs.pdf
  • Table 3 Text
    ... total chromosomes genotyped MAF mean MAF stdev chromosomes genotyped ... criterion prediction score number sequences aligned prediction score divergence ...
    icr.ac.uk/research/research_sections/.../2842.txt

Other in silico analyses
 

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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