COL5A1 R792X - GET-Evidence

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

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COL5A1 R792X

(COL5A1 Arg792Stop)

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 (5 hits -- see all)
  • Mendelian Inheritance in Man Document Reader
    Using cDNA and genomic clones for the COL5A1 gene as probes, Greenspan et al. (1992) ... COL5A1 to the index markers of chromosome 9 by evaluation of the ...
  • COL5A1 Haploinsufficiency Is a Common Molecular Mechanism ...
    We have identified haploinsufficiency of the COL5A1 gene that encodes the pro ... COL5A1 alleles were approximately equal after the addition of cycloheximide to ...

Other in silico analyses

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 6

Edit history

Gene search

"GENE" or "GENE A123C":

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