OR5A1 I52V - 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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OR5A1 I52V

(OR5A1 Ile52Val)

You are viewing the latest version of this page, saved on March 29, 2011 at 8:55pm by Genome Importing Robot.

Short summary


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


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • G @ chr11:59210795: 1.0% (106/10758) in EVS
  • G @ chr11:58967370: 3.1% (4/128) in GET-Evidence
  • Frequency shown in summary reports: 1.0% (106/10758)



huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het G @ chr11:59210795


GS18558 - var-GS18558-1100-36-ASM
het G @ chr11:58967371


Added in this revision:

GS19648 - var-GS19648-1100-36-ASM
het G @ chr11:58967371


Other external references

  • rs17153732
  • Score: 0.974 (probably damaging)
    Web search results (5 hits -- see all)
  • OR5A1 Gene - GeneCards | OR5A1 Protein | OR5A1 Antibody
    EntrezGene summary for OR5A1: Olfactory receptors interact with odorant molecules in the ... OR5A1 Gene in genomic location: bands according to Ensembl, locations ...
  • Olfactory receptor 5A1 - Homo sapiens (Human)
    OR5A1. Synonyms: OR5A1P. Organism. Homo sapiens (Human) [Complete proteome] Taxonomic ... OR5A1. PharmGKB. PA32454. GenAtlas. Search... Phylogenomic databases ...
  • Supplementary Table xls.1
    Administrator B**a***=***£***h*J*\I08*X*@*ì*"*******1* É*ÿ**Arial1* É*ÿ**Arial1 ... rs17153732. rs17153766*E11Q. rs17153770*F102S. rs17153882*R46S ...
  • UniProt: Q8NGJ0
    AC Q8NGJ0; B9EH58; Q6IFF2; Q96RB1; DT 10-OCT-2003, integrated into UniProtKB/Swiss-Prot. ... GC11P058967; -. DR H-InvDB; HIX0036057; -. DR HGNC; HGNC:8319; OR5A1. ...

Other in silico analyses

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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