CSRP3 W4R - GET-Evidence

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

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Curation:
Currentness:

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CSRP3 W4R

(CSRP3 Trp4Arg)


You are viewing an old version of this page that was saved on November 13, 2012 at 3:07pm by Madeleine Ball.

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

  • G @ chr11:19213986: 0.4% (42/10758) in EVS
  • Frequency shown in summary reports: 0.4% (42/10758)

Publications
 

Added in this revision:

Knöll R, Hoshijima M, Hoffman HM, Person V, Lorenzen-Schmidt I, Bang ML, Hayashi T, Shiga N, Yasukawa H, Schaper W, McKenna W, Yokoyama M, Schork NJ, Omens JH, McCulloch AD, Kimura A, Gregorio CC, Poller W, Schaper J, Schultheiss HP, Chien KR. The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. Cell. 2002 Dec 27;111(7):943-55. PubMed PMID: 12507422.

 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the CSRP3 gene
    Dilated Cardiomyopathy
    Familial Hypertrophic Cardiomyopathy
    CSRP3-Related Dilated Cardiomyopathy
    CSRP3-Related Familial Hypertrophic Cardiomyopathy
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CSRP3
    PolyPhen-2
  • Score: 0.958 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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