COL9A1 M767V - 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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COL9A1 M767V

(COL9A1 Met767Val)

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

  • C @ chr6:70944257: 4.5% (479/10758) in EVS
  • C @ chr6:71000977: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 4.5% (479/10758)



GS18508 - var-GS18508-1100-36-ASM
het C @ chr6:71000978


GS18526 - var-GS18526-1100-36-ASM
het C @ chr6:71000978


GS18940 - var-GS18940-1100-36-ASM
het C @ chr6:71000978


GS19017 - var-GS19017-1100-36-ASM
het C @ chr6:71000978


GS19700 - var-GS19700-1100-36-ASM
het C @ chr6:71000978


Other external references

  • rs6910140
  • GeneTests records for the COL9A1 gene
    Stickler Syndrome
    COL9A1-Related Multiple Epiphyseal Dysplasia
    COL9A1-Related Stickler Syndrome
    Multiple Epiphyseal Dysplasia, Dominant
    Web search results (0 hits -- see all)

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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