OR2Y1 V154M - 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:

OR2Y1 V154M

(OR2Y1 Val154Met)


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 @ chr5:180166599: 1.8% (195/10758) in EVS
  • Frequency shown in summary reports: 1.8% (195/10758)

Publications
 

Genomes
 

Other external references
 

    dbSNP
  • rs11954074
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (4 hits -- see all)
  • OR2Y1 Gene - GeneCards | OR2Y1 Protein | OR2Y1 Antibody
    EntrezGene summary for OR2Y1: Olfactory receptors interact with odorant molecules in the ... OR2Y1 Gene in genomic location: bands according to Ensembl, locations ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=OR2Y1
  • GPM - protein model: ENSP00000312403
    OR2Y1-201. ENST00000307832. 936. ENSP00000312403. 311. Protein codingA protein coding ... Gene_Symbol=OR2Y1 Olfactory receptor 2Y1 [view all locations] ...
    gpmdb.thegpm.org/thegpm-cgi/protein.pl?npep=0&...
  • Olfactory receptor 2Y1 - Homo sapiens (Human)
    OR2Y1. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic identifier. 9606 [NCBI] ... OR2Y1. PharmGKB. PA32220. GenAtlas. Search... Phylogenomic databases. eggNOG. prNOG10370. ...
    www.uniprot.org/uniprot/Q8NGV0

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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