COL11A2 P1722L - GET-Evidence

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

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COL11A2 P1722L

(COL11A2 Pro1722Leu)

You are viewing the latest version of this page, saved on November 29, 2012 at 7:39am by Genome Importing Robot.

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 @ chr6:33131501: 1.7% (129/7518) in EVS
  • A @ chr6:33239478: 2.4% (3/126) in GET-Evidence
  • Frequency shown in summary reports: 1.7% (129/7518)







huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr6:33131501


Added in this revision:


GS12004 - var-GS12004-1100-36-ASM
het A @ chr6:33239479


Other external references

  • rs2229792
  • GeneTests records for the COL11A2 gene
    Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant
    Stickler Syndrome
    COL11A2-Related Stickler Syndrome
    DFNA13 Nonsyndromic Hearing Loss and Deafness
    Otospondylomegaepiphyseal Dysplasia
    Weissenbacher-Zweymuller Syndrome
    Web search results (0 hits -- see all)

Other in silico analyses

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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