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    Data summary

    • Publications : 991
    • Phenotypes : 178
    • Genes : 207
    • Mutations : 4573
    • SNVs : 3404
    • InDels : 1169
    • Last Update : 26/10/2017

    Data Submission


    If you are an author of a study regarding IRD and do not find your mutation data in RetinoGenetics, please feel free to submit your data below. This will be important for our future development.
    You may need the format of mutation data, if the variant is single nucleotide variantion (SNV), examples like c.3G>C, c.89-1G>T, c.88+2T>G will be helpful, if the variant is insertion, examples like c.51_52insT, c.51_52insGAGA will be helpful, if the variant is deletion, examples like c.13delG, c.92_94delGAC, c.120_123+48del will be helpful.

    •  Gene symbol:
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    •  Transcript ID:
            
    •  Disease name:
             *
    •  Mutation data:
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    •  PubMed ID:
             *
    •  Your email:
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