COL5A1 G856Shift - 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:

COL5A1 G856Shift

(COL5A1 856delGinsShift)


Short summary

While this specific variant has not been studied and in fact seems not to appear in any available data, numerous other variants in COL5A1 are associated with Ehlers-Danlos syndrome phenotypes, some of which are thought to be causative.

Variant evidence
Computational 2

NBLOSUM=4; other variants in this gene are known to cause disease

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

  • None available.

Publications
 

Genomes
 

Other external references
 

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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