TAS2R31 A227V - 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.

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Curation:
Currentness:

TAS2R31 A227V

(TAS2R31 Ala227Val)


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

  • A @ chr12:11183255: 45.7% (4914/10758) in EVS
  • A @ chr12:11074521: 34.8% (32/92) in GET-Evidence
  • Frequency shown in summary reports: 45.7% (4914/10758)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom A @ chr12:11183255

 

hu0D879F

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr12:11183255

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het A @ chr12:11183255

 

 

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom A @ chr12:11183255

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr12:11183255

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het A @ chr12:11183255

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het A @ chr12:11183255

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chr12:11183255

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chr12:11183255

 

GS06994 - var-GS06994-1100-36-ASM
het A @ chr12:11074522

 

GS07357 - var-GS07357-1100-36-ASM
hom A @ chr12:11074522

 

GS18501 - var-GS18501-1100-36-ASM
het A @ chr12:11074522

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr12:11074522

 

GS18504 - var-GS18504-1100-36-ASM
het A @ chr12:11074522

 

GS18505 - var-GS18505-1100-36-ASM
het A @ chr12:11074522

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr12:11074522

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr12:11074522

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr12:11074522

 

GS19017 - var-GS19017-1100-36-ASM
het A @ chr12:11074522

 

GS19129 - var-GS19129-1100-36-ASM
het A @ chr12:11074522

 

GS19239 - var-GS19239-1100-36-ASM
hom A @ chr12:11074522

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr12:11074522

 

GS19648 - var-GS19648-1100-36-ASM
het A @ chr12:11074522

 

GS19649 - var-GS19649-1100-36-ASM
het A @ chr12:11074522

 

GS19700 - var-GS19700-1100-36-ASM
het A @ chr12:11074522

 

GS19703 - var-GS19703-1100-36-ASM
het A @ chr12:11074522

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr12:11074522

 

GS20509 - var-GS20509-1100-36-ASM
hom A @ chr12:11074522

 

GS21767 - var-GS21767-1100-36-ASM
hom A @ chr12:11074522

 

Other external references
 

    dbSNP
  • rs10845293
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.009 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 0

Edit history
 

Gene search

"GENE" or "GENE A123C":

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