COL2A1 V1331I - GET-Evidence

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

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COL2A1 V1331I

(COL2A1 Val1331Ile)

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

  • T @ chr12:48368541: 5.3% (572/10758) in EVS
  • T @ chr12:46654807: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 5.3% (572/10758)



hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr12:48368541


hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het T @ chr12:48368541


hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het T @ chr12:48368541


hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr12:48368541


hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr12:48368541


GS07357 - var-GS07357-1100-36-ASM
het T @ chr12:46654808


GS12004 - var-GS12004-1100-36-ASM
het T @ chr12:46654808


GS18942 - var-GS18942-1100-36-ASM
het T @ chr12:46654808


GS19648 - var-GS19648-1100-36-ASM
het T @ chr12:46654808




Other external references

  • rs12721427
  • GeneTests records for the COL2A1 gene
    Stickler Syndrome
    Achondrogenesis Type 2
    Avascular Necrosis of Femoral Head, Primary
    COL2A1-Associated Stickler Syndrome
    COL2A1-Related Stickler Syndrome
    Kniest Dysplasia
    Osteoarthritis with Mild Chondrodysplasia
    Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
    Spondyloepimetaphyseal Dysplasia, Strudwick Type
    Spondyloepiphyseal Dysplasia
    Spondyloepiphyseal Dysplasia, Congenita
    Spondyloperipheral Dysplasia
    Type II Collagenopathies
    Web search results (0 hits -- see all)

Other in silico analyses

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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