TEKT4 R391C - 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:

TEKT4 R391C

(TEKT4 Arg391Cys)


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 @ chr2:95542377: 3.2% (344/10756) in EVS
  • TT,GT @ chr2:94906102: 38.2% (13/34) in GET-Evidence
  • Frequency shown in summary reports: 3.2% (344/10756)

Publications
 

Genomes
 

hu0D879F

 

 

huE80E3D

 

GS06985 - var-GS06985-1100-36-ASM
het TT @ chr2:94906103

 

GS18502 - var-GS18502-1100-36-ASM
het TT @ chr2:94906103

 

GS18508 - var-GS18508-1100-36-ASM
het TT @ chr2:94906103

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr2:94906104

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr2:94906104

 

GS18537 - var-GS18537-1100-36-ASM
het TT @ chr2:94906103

 

GS19240 - var-GS19240-1100-36-ASM
het TT @ chr2:94906103

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr2:94906104

 

GS19701 - var-GS19701-1100-36-ASM
het TT @ chr2:94906103

 

Other external references
 

    dbSNP
  • rs72817671
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.151 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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