TTN A14593V - 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 A14593V

(TTN Ala14593Val)


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

  • A @ chr2:179474668: 3.0% (290/9702) in EVS
  • A @ chr2:179182912: 7.8% (10/128) in GET-Evidence
  • Frequency shown in summary reports: 3.0% (290/9702)

Publications
 

Genomes
 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr2:179474668

 

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr2:179182913

 

GS18537 - var-GS18537-1100-36-ASM
het A @ chr2:179182913

 

GS18558 - var-GS18558-1100-36-ASM
hom A @ chr2:179182913

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr2:179182913

 

GS19020 - var-GS19020-1100-36-ASM
het A @ chr2:179182913

 

GS19129 - var-GS19129-1100-36-ASM
het A @ chr2:179182913

 

GS19701 - var-GS19701-1100-36-ASM
het A @ chr2:179182913

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr2:179182913

 

Other external references
 

    dbSNP
  • rs16866412
    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 = 2
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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