ITGB3 S752P - GET-Evidence

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

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(ITGB3 Ser752Pro)

Short summary


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


Insufficiently evaluated pathogenic

(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

  • None available.



Other external references

    Web search results (4 hits -- see all)
  • OMIM: 173470
    These studies showed that the ITGA2B and ITGB3 genes are not closely linked, with ITGA2B ... the ITGA2B and ITGB3 genes are point mutations: 10 in ITGB3 and 12 in ...
  • Blood -- Integrin Signaling: The Platelet Paradigm
    Alert me to new issues of the journal. Download to citation manager ... exhibits a point mutation in 3 (3 S752P),106 the other exhibits a deletion of the ...
  • L718P mutation in the membrane-proximal cytoplasmic tail of 3 ...
    S752P, 15. and IVS14-3C>G, 16. were found in homozygosis associated. to variant forms of GT ... patient prompted the sequence analysis of the ITGA2B and ITGB3 genes. ...

Other in silico analyses

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

Edit history

Gene search

"GENE" or "GENE A123C":

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