TTN N14094T - GET-Evidence

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Curation:
Currentness:

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TTN N14094T

(TTN Asn14094Thr)


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Allele frequency

  • G @ chr2:179477267: 1.4% (139/9764) in EVS
  • G @ chr2:179185511: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 1.4% (139/9764)

Publications
 

Genomes
 

Added in this revision:

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het G @ chr2:179477267

 

Other external references
 

    dbSNP
  • rs36043230
    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
    Web search results (0 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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