COMP N386D - GET-Evidence

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

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Curation:
Currentness:

COMP N386D

(COMP Asn386Asp)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • C @ chr19:18897440: 3.6% (382/10758) in EVS
  • C @ chr19:18758439: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 3.6% (382/10758)

Publications
 

Genomes
 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het C @ chr19:18897440

 

Other external references
 

    dbSNP
  • rs61739916
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the COMP gene
    Multiple Epiphyseal Dysplasia, Dominant
    COMP-Related Multiple Epiphyseal Dysplasia
    Pseudoachondroplasia
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COMP
    Web search results (6 hits -- see all)
  • European Journal of Human Genetics - COMP mutation screening ...
    COMP mutation screening as an aid for the clinical diagnosis and ... was surprising that the type I SNP (N386D) was not disease-causing because it affects a ...
    www.nature.com/ejhg/journal/v13/n5/full/5201374a.html
  • Pseudoachondroplasia -- GeneReviews -- NCBI Bookshelf
    COMP, the gene encoding the cartilage oligomeric matrix protein, is the only ... COMP mutations have been reported in a spectrum of skeletal disorders ranging ...
    www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=psach
  • Sex and ethnic differences in the association of ASPN, CALM1 ...
    trations of COMP with prevalent OA has also been. reported, for COMP alone and in ... COMP (chr. 19) 18758455. comp_386. Valdes. et. al (20) N386D. A. G. 0.85. 9.2 ...
    twinsuk.ac.uk/Publicatons/2007/Valdes A. Arthritis& Rheum...
  • 21 - 23 FEBBRAIO 2008
    Astarita L, Fecarotta S, Sibilio M, Ungaro C, Paladino S, Mansi G, Iadecicco 2, ... Balivo F., Melis D., Della Casa R., Gaudieri V., D'Elia F., Romano A., Taurisano ...
    www.prospettiveinpediatria.it/doc/atti08.pdf
  • 研究終了報告書
    p94:N386D _ _ _ _ _ _p94 _ _ _ _ _ _3]-_ _ _ _ Ono, Y. et al. (2008) ... Comp. Neurol., 474, 589-602. 10) Nakamura, M., Sato, K., Fukaya, M., Araishi, K., Aiba, A. ...
    jst.go.jp/kisoken/.../sh_heisei14/tannpaku/sorimachi.pdf

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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