TTN R32283Q - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

TTN R32283Q

(TTN Arg32283Gln)


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

  • None available.

Publications
 

Genomes
 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het T @ chr2:179396766

 

Other external references
 

    dbSNP
  • rs68080670
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the TTN gene
    Limb-Girdle Muscular Dystrophies, Autosomal Recessive
    Dilated Cardiomyopathy
    Familial Hypertrophic Cardiomyopathy
    Limb-Girdle Muscular Dystrophy Type 2J
    TTN-Related Dilated Cardiomyopathy
    TTN-Related Familial Hypertrophic Cardiomyopathy
    Udd Distal Myopathy
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TTN

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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