STXBP2 I526V - 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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Curation:
Currentness:

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STXBP2 I526V

(STXBP2 Ile526Val)


You are viewing an old version of this page that was saved on June 22, 2011 at 11:41pm by Genome Importing Robot.

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
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom G @ chr19:7712277

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr19:7712277

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het G @ chr19:7712277

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
hom G @ chr19:7712277

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het G @ chr19:7712277

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr19:7712277

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
hom G @ chr19:7712277

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het G @ chr19:7712277

 

GS06985 - var-GS06985-1100-36-ASM
hom G @ chr19:7618277

 

GS06994 - var-GS06994-1100-36-ASM
hom G @ chr19:7618277

 

GS07357 - var-GS07357-1100-36-ASM
het G @ chr19:7618277

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr19:7618277

 

GS12004 - var-GS12004-1100-36-ASM
het G @ chr19:7618277

 

GS18502 - var-GS18502-1100-36-ASM
hom G @ chr19:7618277

 

GS18504 - var-GS18504-1100-36-ASM
hom G @ chr19:7618277

 

GS18505 - var-GS18505-1100-36-ASM
het G @ chr19:7618277

 

GS18508 - var-GS18508-1100-36-ASM
hom G @ chr19:7618277

 

GS18517 - var-GS18517-1100-36-ASM
het G @ chr19:7618277

 

GS18526 - var-GS18526-1100-36-ASM
hom G @ chr19:7618277

 

GS18537 - var-GS18537-1100-36-ASM
hom G @ chr19:7618277

 

GS18555 - var-GS18555-1100-36-ASM
hom G @ chr19:7618277

 

GS18558 - var-GS18558-1100-36-ASM
hom G @ chr19:7618277

 

GS18940 - var-GS18940-1100-36-ASM
hom G @ chr19:7618277

 

GS18942 - var-GS18942-1100-36-ASM
hom G @ chr19:7618277

 

GS18947 - var-GS18947-1100-36-ASM
hom G @ chr19:7618277

 

GS18956 - var-GS18956-1100-36-ASM
het G @ chr19:7618277

 

GS19017 - var-GS19017-1100-36-ASM
het G @ chr19:7618277

 

GS19020 - var-GS19020-1100-36-ASM
hom G @ chr19:7618277

 

GS19025 - var-GS19025-1100-36-ASM
het G @ chr19:7618277

 

GS19026 - var-GS19026-1100-36-ASM
het G @ chr19:7618277

 

GS19129 - var-GS19129-1100-36-ASM
hom G @ chr19:7618277

 

GS19238 - var-GS19238-1100-36-ASM
hom G @ chr19:7618277

 

GS19239 - var-GS19239-1100-36-ASM
hom G @ chr19:7618277

 

GS19240 - var-GS19240-1100-36-ASM
hom G @ chr19:7618277

 

GS19648 - var-GS19648-1100-36-ASM
hom G @ chr19:7618277

 

GS19649 - var-GS19649-1100-36-ASM
hom G @ chr19:7618277

 

GS19669 - var-GS19669-1100-36-ASM
hom G @ chr19:7618277

 

GS19670 - var-GS19670-1100-36-ASM
het G @ chr19:7618277

 

GS19700 - var-GS19700-1100-36-ASM
het G @ chr19:7618277

 

GS19701 - var-GS19701-1100-36-ASM
het G @ chr19:7618277

 

GS19703 - var-GS19703-1100-36-ASM
hom G @ chr19:7618277

 

GS19704 - var-GS19704-1100-36-ASM
het G @ chr19:7618277

 

GS19834 - var-GS19834-1100-36-ASM
hom G @ chr19:7618277

 

GS20502 - var-GS20502-1100-36-ASM
het G @ chr19:7618277

 

GS20509 - var-GS20509-1100-36-ASM
het G @ chr19:7618277

 

GS21767 - var-GS21767-1100-36-ASM
het G @ chr19:7618277

 

NA07022

 

NA12878

 

NA18507

 

NA18517

 

NA18956

 

NA19129

 

NA19240

 

snp-18

 

snp-27

 

snp-28

 

snp-29

 

Deleted in this revision:

snp-29

 

snp-3

 

snp-30

 

snp-31

 

snp-5

 

snp-6

 

Other external references
 

    dbSNP
  • rs6791
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    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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