COMP C348R - GET-Evidence

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

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Curation:
Currentness:

COMP C348R

(COMP Cys348Arg)


Short summary

 

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

Impact

Insufficiently evaluated pathogenic

(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

  • None available.

Publications
 

Genomes
 

Other external references
 

    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 (9 hits -- see all)
  • Double heterozygosity for pseudoachondroplasia and ...
    The COMP gene mutation (C348R), while not previously published, is typical of those in PSACH patients, whereas the COL2A1 mutation (T1370M) is ...
    www.ncbi.nlm.nih.gov/pubmed/11746045
  • COL2A1 - collagen, type II, alpha 1
    The COMP gene mutation (C348R), while not previously published, is typical of those in ... COMP, FGFR3, RMRP, and SBDS in one or more patients have given ...
    www.ihop-net.org/UniPub/iHOP/gs/87320.html
  • Rerências
    v. 3. 132 p. Lit/C348r/v.3. CASTILHO, Antonio Feliciano de. Vivos e mortos: apreciações ... Tours: Typographia de Arrault e comp, 1926. 398 p. Lit/R154t. RAYMOND, Marcel. Fénelon. ...
    www.arquivohistorico.ufjf.br/nms_cpo008_odilon_080710.doc
  • Boletin N° 124 Junio 2005
    628.4458/C348r/2000. FISHER, Roger. Obtenga el SÍ : el arte de ... SAMANIEGO, Mario; GARBARINI, Carmen Gloria (comp.) Rostros y fronteras de la identidad. ...
    www.sibib.ucm.cl/boletin/b_124.htm
  • PubMed: 11746045
    The COMP gene mutation (C348R), while not previously published, is typical of those in PSACH patients, whereas the COL2A1 mutation (T1370M) is ...
    www.genome.jp/dbget-bin/www_bget?pubmed+11746045
  • Double heterozygosity for pseudoachondroplasia and ...
    The COMP gene mutation (C348R), while not previously published, is typical of those in PSACH patients, whereas the COL2A1 mutation (T1370M) is ...
    www.medscape.com/medline/abstract/11746045?prt=true
  • Scapuloiliac dysostosis (Kosenow syndrome, pelvis-shoulder ...
    The COMP gene mutation (C348R), while not previously published, is typical of those in ... with MED produced by COMP mutations, two families with COL9A2 ...
    lib.bioinfo.pl/pmid:11146473
  • Genetic linkage of mild pseudoachondroplasia (PSACH) to ...
    We report the identification of COMP mutations in an additional 14 families with PSACH or MED phenotypes. ... The COMP gene mutation (C348R), while not previously published, is ...
    lib.bioinfo.pl/pmid:8307576

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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