TCF20 M1165I - 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:

TCF20 M1165I

(TCF20 Met1165Ile)


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

  • T @ chr22:42607817: 3.3% (355/10758) in EVS
  • T @ chr22:40937760: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 3.3% (355/10758)

Publications
 

Genomes
 

GS18501 - var-GS18501-1100-36-ASM
het T @ chr22:40937761

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr22:40937761

 

GS19129 - var-GS19129-1100-36-ASM
het T @ chr22:40937761

 

GS19238 - var-GS19238-1100-36-ASM
het T @ chr22:40937761

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chr22:40937761

 

GS19701 - var-GS19701-1100-36-ASM
het T @ chr22:40937761

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr22:40937761

 

Other external references
 

    dbSNP
  • rs17002890
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.925 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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