TBRG1 P406S - 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:

TBRG1 P406S

(TBRG1 Pro406Ser)


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 @ chr11:124502114: 1.5% (166/10758) in EVS
  • T @ chr11:124007323: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 1.5% (166/10758)

Publications
 

Genomes
 

GS18940 - var-GS18940-1100-36-ASM
het T @ chr11:124007324

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr11:124007324

 

GS18956 - var-GS18956-1100-36-ASM
het T @ chr11:124007324

 

GS19129 - var-GS19129-1100-36-ASM
het T @ chr11:124007324

 

Other external references
 

    PolyPhen-2
  • Score: 0.999 (probably damaging)
    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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