VWF R2185Q - GET-Evidence

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

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Curation:
Currentness:

VWF R2185Q

(VWF Arg2185Gln)


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

  • T @ chr12:6103072: 7.0% (750/10758) in EVS
  • T @ chr12:5973332: 5.2% (6/116) in GET-Evidence
  • Frequency shown in summary reports: 7.0% (750/10758)

Publications
 

Genomes
 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr12:5973333

 

GS18505 - var-GS18505-1100-36-ASM
het T @ chr12:5973333

 

GS19129 - var-GS19129-1100-36-ASM
hom T @ chr12:5973333

 

GS19238 - var-GS19238-1100-36-ASM
het T @ chr12:5973333

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr12:5973333

 

Other external references
 

    dbSNP
  • rs2229446
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.999 (probably damaging)
    Web search results (5 hits -- see all)
  • Blood -- The mutational spectrum of type 1 von Willebrand ...
    At sites of vascular injury, VWF is released and binds to the platelet glycoprotein Ib ... through which VWF and fibrinogen mediate platelet aggregation.3 VWF is also secreted ...
    bloodjournal.hematologylibrary.org/cgi/content/full/109/...
  • Microsoft PowerPoint ...
    Normal VWF Multimer Patterns. HMW. 20 mDa. LMW. 500 kDa. 11/27/2008. 13. ISTH 2006 VWD ... VWF:Ag. 35% Discrepant RCo/Ag ratio. 1. 2. 3. 4. High MW. VWF Multimer ...
    pediatrics.ualberta.ca/Library/Documents/Uploads/...
  • Methods And Kits For Measuring Von Willebrand Factor
    VWF is deficient or defective in von Willebrand disease (VWD) and is involved in ... VWF:RCo utilizes an ability of VWF to bind platelet GPIb following activation by ...
    www.freshpatents.com/-dt20090604ptan20090142779.php
  • METHODS AND KITS FOR MEASURING VON WILLEBRAND FACTOR - Patent ...
    ... done without a platelet aggregation agonist; anddetecting a complex of VWF and GPIb.alpha. ... a labeled anti-VWF antibody is used to detect the complex of VWF and GPIb.alpha. ...
    www.faqs.org/patents/app/20090142779

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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