ITGA6 A380T - 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!


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(ITGA6 Ala380Thr)

You are viewing an old version of this page that was saved on December 27, 2009 at 3:57pm by Genome Importing Robot.

Added in this revision:

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 @ chr2:173339808: 31.6% (3398/10758) in EVS
  • A @ chr2:173048053: 32.0% (41/128) in GET-Evidence
  • Frequency shown in summary reports: 31.6% (3398/10758)



Other external references

  • GeneTests records for the ITGA6 gene
    Epidermolysis Bullosa with Pyloric Atresia
    ITGA6-Related Epidermolysis Bullosa with Pyloric Atresia
    Web search results (5 hits -- see all)

Other in silico analyses

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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