COL2A1 G1405S - GET-Evidence

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

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COL2A1 G1405S

(COL2A1 Gly1405Ser)

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 @ chr12:48367976: 6.9% (740/10758) in EVS
  • T @ chr12:46654242: 10.9% (14/128) in GET-Evidence
  • Frequency shown in summary reports: 6.9% (740/10758)



hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr12:48367976



hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het T @ chr12:48367976



huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr12:48367976


huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het T @ chr12:48367976


GS10851 - var-GS10851-1100-36-ASM
het T @ chr12:46654243


GS18537 - var-GS18537-1100-36-ASM
het T @ chr12:46654243


GS18558 - var-GS18558-1100-36-ASM
hom T @ chr12:46654243


GS18942 - var-GS18942-1100-36-ASM
het T @ chr12:46654243


GS18947 - var-GS18947-1100-36-ASM
het T @ chr12:46654243


GS18956 - var-GS18956-1100-36-ASM
het T @ chr12:46654243


GS19669 - var-GS19669-1100-36-ASM
het T @ chr12:46654243


GS19670 - var-GS19670-1100-36-ASM
het T @ chr12:46654243


GS19735 - var-GS19735-1100-36-ASM
het T @ chr12:46654243


GS20502 - var-GS20502-1100-36-ASM
het T @ chr12:46654243


Other external references

  • rs2070739
  • 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

Other in silico analyses

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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