OPN1LW Y309F - 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:

OPN1LW Y309F

(OPN1LW Tyr309Phe)


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
 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chrX:153421950

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chrX:153421950

 

Other external references
 

    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 = –4
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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