OPN1LW L153M - 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:

OPN1LW L153M

(OPN1LW Leu153Met)


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

  • A @ chrX:153418460: 1.2% (97/8030) in EVS
  • A @ chrX:153071653: 18.2% (14/77) in GET-Evidence
  • Frequency shown in summary reports: 1.2% (97/8030)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom A @ chrX:153418460

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
hom A @ chrX:153418460

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom A @ chrX:153418460

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chrX:153418460

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chrX:153418460

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het A @ chrX:153418460

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
hom A @ chrX:153418460

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
hom A @ chrX:153418460

 

huC30901

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het A @ chrX:153418460

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom A @ chrX:153418460

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
hom A @ chrX:153418460

 

GS07357 - var-GS07357-1100-36-ASM
hom A @ chrX:153071654

 

GS18502 - var-GS18502-1100-36-ASM
hom A @ chrX:153071654

 

GS18558 - var-GS18558-1100-36-ASM
hom A @ chrX:153071654

 

GS19669 - var-GS19669-1100-36-ASM
hom A @ chrX:153071654

 

GS19670 - var-GS19670-1100-36-ASM
hom A @ chrX:153071654

 

GS20502 - var-GS20502-1100-36-ASM
hom A @ chrX:153071654

 

Other external references
 

    dbSNP
  • rs713
    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
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (0 hits -- see all)

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in