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.

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


VWF A2178S

(VWF Ala2178Ser)

You are viewing the latest version of this page, saved on November 29, 2012 at 5:01am by Genome Importing Robot.

Short summary


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


Insufficiently evaluated not reviewed

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

Inheritance pattern


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)



Added in this revision:


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


Other external references

  • rs34230288
  • 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 ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

Log in