OPN1LW L153M - GET-Evidence

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

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(OPN1LW Leu153Met)

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

  • 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)



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




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

  • rs713
  • 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
  • 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":

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