COMP C328R - GET-Evidence

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

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(COMP Cys328Arg)

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

  • GeneTests records for the COMP gene
    Multiple Epiphyseal Dysplasia, Dominant
    COMP-Related Multiple Epiphyseal Dysplasia
    Web search results (27 hits -- see all)
  • OMIM: 600310
    GENE FUNCTION Thur et al. (2001) expressed recombinant wildtype COMP that showed structural and functional properties identical to COMP isolated from cartilage. ...
  • 24-bit memory DC
    I am using GDI functions to draw into a 24-bit image obtained from a camera ... before ... (comp.arch.embedded) Re: Transitioning to Nikon D50 from Nikon F4 and accessoires ...
  • LPC2000 Discussion Group/Forum on
    Discussion groups and forums for DSP engineers ... hi,has anyone worked on c328r.i m facing problem in synchronizing with camera.i hav connected camera to uart1 ...
  • Die Auswirkungen von Chondrodysplasie-assoziierten Mutationen ...
    COMP in which Asp361 was substituted by Tyr (D361Y) were both secreted into the ... exprimierte rekombinant Wildtyp-COMP, das strukturell und funktionell ...
  • Bombusmod Avalon
    Publish your documents quickly and easily, share them with others, and manage or ... comp comp-4002 comp-epi comp1110 comp2spaceinvaders comp3331-group3 ...
  • IC、电子元件、半导体、元器件搜索 -WWW.CCTVIC.COM (1664)
  • Presentation: Expression of Cartilage Oligomeric Matrix ...
    METHODS: Wild type and three missense COMP constructs (C328R, D361Y, G440E), prepared by site directed ... compared to cells that expressed wild type COMP or other COMP mutants. ...
  • interfacing of lpc2148 with c328r | LPC2000 |
    Comp.Arch.Embedded. Books. Internet Resources. Sign in. username: password: Not a member? ... hi,has anyone worked on c328r.i m facing problem in synchronizing with ...
  • Re: Digital Camera USB problems
    The camera has several usb modes, I have it set on Normal. ... One of them should export ... (comp.arch.embedded) Re: Partition check considered as error is breaking mounting in ...
  • Memory Card Question
    to transfer photos from camera using memory ... USB wire only? ... For the camera, the C328R from Co-media was selected. (comp.arch.embedded) Re: Transitioning to Nikon D50 ...

Other in silico analyses

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 5

Edit history

Gene search

"GENE" or "GENE A123C":

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