VWF A2178S - 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:

VWF A2178S

(VWF Ala2178Ser)


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

  • A @ chr12:6103094: 1.6% (170/10758) in EVS
  • A @ chr12:5973354: 0.9% (1/116) in GET-Evidence
  • Frequency shown in summary reports: 1.6% (170/10758)

Publications
 

Genomes
 

 

GS07357 - var-GS07357-1100-36-ASM
het A @ chr12:5973355

 

Other external references
 

    dbSNP
  • rs34230288
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.381 (possibly damaging)
    Web search results (1 hit -- see all)
  • Congress of the International Society on Thrombosis and ...
    Eight different candidate VWF gene mutations have been identified in 17 of these cases. ... V1850M (exon 32), present in 1 family, A2178S (exon 37), observed in 5 families, and ...
    www.blackwellpublishing.com/isth2005/abstract.asp?id=46309

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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