TTN D6218H - 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 D6218H

(TTN Asp6218His)


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

  • G @ chr2:179587130: 15.7% (1513/9636) in EVS
  • G @ chr2:179295374: 22.7% (29/128) in GET-Evidence
  • Frequency shown in summary reports: 15.7% (1513/9636)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het G @ chr2:179587130

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het G @ chr2:179587130

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het G @ chr2:179587130

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het G @ chr2:179587130

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het G @ chr2:179587130

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het G @ chr2:179587130

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het G @ chr2:179587130

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het G @ chr2:179587130

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het G @ chr2:179587130

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het G @ chr2:179587130

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het G @ chr2:179587130

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom G @ chr2:179587130

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr2:179587130

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het G @ chr2:179587130

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het G @ chr2:179587130

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het G @ chr2:179587130

 

GS18508 - var-GS18508-1100-36-ASM
het G @ chr2:179295375

 

GS18526 - var-GS18526-1100-36-ASM
hom G @ chr2:179295375

 

GS18537 - var-GS18537-1100-36-ASM
het G @ chr2:179295375

 

GS18942 - var-GS18942-1100-36-ASM
hom G @ chr2:179295375

 

GS18947 - var-GS18947-1100-36-ASM
het G @ chr2:179295375

 

GS18956 - var-GS18956-1100-36-ASM
het G @ chr2:179295375

 

GS19020 - var-GS19020-1100-36-ASM
het G @ chr2:179295375

 

GS19238 - var-GS19238-1100-36-ASM
hom G @ chr2:179295375

 

GS19239 - var-GS19239-1100-36-ASM
het G @ chr2:179295375

 

GS19240 - var-GS19240-1100-36-ASM
het G @ chr2:179295375

 

GS19648 - var-GS19648-1100-36-ASM
het G @ chr2:179295375

 

GS19649 - var-GS19649-1100-36-ASM
het G @ chr2:179295375

 

GS19669 - var-GS19669-1100-36-ASM
het G @ chr2:179295375

 

GS19701 - var-GS19701-1100-36-ASM
hom G @ chr2:179295375

 

GS19735 - var-GS19735-1100-36-ASM
het G @ chr2:179295375

 

GS20509 - var-GS20509-1100-36-ASM
het G @ chr2:179295375

 

Other external references
 

    dbSNP
  • rs12693166
    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 = 3
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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