TTN R32018H - 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 R32018H

(TTN Arg32018His)


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
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr2:179397561

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het T @ chr2:179397561

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het T @ chr2:179397561

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het T @ chr2:179397561

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het T @ chr2:179397561

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
het T @ chr2:179397561

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom T @ chr2:179397561

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom T @ chr2:179397561

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
hom T @ chr2:179397561

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr2:179397561

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr2:179397561

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het T @ chr2:179397561

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het T @ chr2:179397561

 

Other external references
 

    dbSNP
  • rs3829747
    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 = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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