OPN1LW A233S - 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!



(OPN1LW Ala233Ser)

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

  • AGC @ chrX:153073360: 3.9% (3/76) in GET-Evidence
  • Frequency shown in summary reports: 3.9% (3/76)



hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het AGC @ chrX:153420167


hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het AGC @ chrX:153420167



hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom AGC @ chrX:153420167


hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het AGC @ chrX:153420167


hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het AGC @ chrX:153420167


huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het AGC @ chrX:153420167


huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het AGC @ chrX:153420167


GS18502 - var-GS18502-1100-36-ASM
het AGC @ chrX:153073361


GS18517 - var-GS18517-1100-36-ASM
het AGC @ chrX:153073361


GS18942 - var-GS18942-1100-36-ASM
het AGC @ chrX:153073361


Other external references

  • 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)

Other in silico analyses

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

Log in