OPN1LW S116Y - GET-Evidence

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

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Curation:
Currentness:

OPN1LW S116Y

(OPN1LW Ser116Tyr)


You are viewing the latest version of this page, saved on November 29, 2012 at 4:24am by Genome Importing Robot.

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

  • None available.

Publications
 

Genomes
 

Added in this revision:

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het A @ chrX:153416362

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chrX:153416362

 

Other external references
 

    dbSNP
  • rs1065422
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the OPN1LW gene
    Blue-Mono-Cone-Monochromatic Type Colorblindness
    Red-Green Color Vision Defects
    CREBBP-Related Rubinstein-Taybi Syndrome
    Rubinstein-Taybi Syndrome
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/OPN1LW

Other in silico analyses
 

  • NBLOSUM100 score = 5
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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