TAS2R38 A49P - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

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TAS2R38 A49P

(TAS2R38 Ala49Pro)


You are viewing an old version of this page that was saved on January 12, 2010 at 12:44pm by Alexander Wait Zaranek.

Edited in this revision:

Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated benign

(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 @ chr7:141673345: 43.1% (4638/10758) in EVS
  • G @ chr7:141319813: 45.8% (55/120) in GET-Evidence
  • Frequency shown in summary reports: 43.1% (4638/10758)

Publications
 

Genomes
 

NA07022

 

NA12878

 

NA18507

 

NA18555

 

NA19240

 

snp-1

 

snp-18

 

snp-2

 

snp-3

 

Other external references
 

    PolyPhen-2
  • Score: 0 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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