TAAR2 W168X - 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:

TAAR2 W168X

(TAAR2 Trp168Stop)


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 @ chr6:132938842: 1.9% (203/10758) in EVS
  • T @ chr6:132980534: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 1.9% (203/10758)

Publications
 

Genomes
 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
het T @ chr6:132938842

 

GS18956 - var-GS18956-1100-36-ASM
het T @ chr6:132980535

 

GS19701 - var-GS19701-1100-36-ASM
het T @ chr6:132980535

 

Other external references
 

    dbSNP
  • rs8192646
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (5 hits -- see all)
  • TAAR2 Gene - GeneCards | TAAR2 Protein | TAAR2 Antibody
    TAAR2 Gene in genomic location: bands according to Ensembl, locations according to (and ... Abnova Chimera RNAi Products for Gene knock-down (TAAR2) ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=TAAR2
  • Table S4. Nonsense-SNP Summary (XLS 59 kb)
    Chr Pos (B36) % Peptide Truncation. NMD Candidate. Heterozygosity. MAF ... TAAR2. rs8192646. 6. 132980535. 59.93. NO. 0.1209. 0.0646. 0.0646. 0.1058. 96. 110. 147. TALDO1 ...
    download.cell.com/AJHG/mmcs/journals/0002-9297/...
  • Mooney Lab - MutDB
    TAAR2. Number of Transcript Variants. 1. Visualize Pathways. Using web services (slow) ... DBSNP:rs8192646. 167. W * NCBI. In dbsnp. None. Not scored. Synonymous Mutation List. Back to ...
    www.mutdb.org/cgi-bin/mutdb.pl?id=TAAR2&geneid=9287
  • Identification of Genetic Polymorphic Variants Associated ...
    Methods of predicting effective pharmacological therapies for a subject ... Methods of predicting susceptibility of a subject to develop somatosensory disorders by ...
    www.faqs.org/patents/app/20090253585

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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