OR10G8 T196I - 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:

OR10G8 T196I

(OR10G8 Thr196Ile)


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 @ chr11:123900916: 1.7% (179/10758) in EVS
  • T @ chr11:123406125: 5.5% (7/128) in GET-Evidence
  • Frequency shown in summary reports: 1.7% (179/10758)

Publications
 

Genomes
 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr11:123406126

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr11:123406126

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr11:123406126

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr11:123406126

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr11:123406126

 

GS19735 - var-GS19735-1100-36-ASM
het T @ chr11:123406126

 

Other external references
 

    PolyPhen-2
  • Score: 0 (benign)
    Web search results (0 hits -- see all)

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 1

Edit history
 

Gene search

"GENE" or "GENE A123C":

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