CLN3, 6-KB DEL

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  2. CLN3, 6-KB DEL

HGVS Expressions

    Associated Genes

    CLN3 Gene
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    Clinvar Clinical Significance

    Pathogenic

    CTGA Clinical Significance

    Pathogenic

    Variant Type

    Deletion

    Clinvar

    3554

    Epidemiology in the Arab World

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    Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
    204200.3.1Morocco2PathogenicCeroid Lipofuscinosis, Neuronal, 3Taschner et al. 1995 Large 6 kb deletion
    204200.3.2Morocco1PathogenicTaschner et al. 1995 Unaffected sibling of 204200.3.1
    204200.3.3Morocco1PathogenicTaschner et al. 1995 Unaffected sibling of 204200.3.1
    204200.3.4Morocco1PathogenicTaschner et al. 1995 Unaffected sibling of 204200.3.1
    204200.3.5Morocco1PathogenicTaschner et al. 1995 Unaffected sibling of 204200.3.1
    204200.3.6Morocco1PathogenicTaschner et al. 1995 Unaffected sibling of 204200.3.1
    204200.3.7Morocco1PathogenicTaschner et al. 1995 Unaffected father of 204200.3.1
    204200.3.8Morocco1PathogenicTaschner et al. 1995 Unaffected mother of 204200.3.1
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    Contributors

    • Sayeeda Hana: 13.11.2019

    Edit History

    • Sayeeda Hana: 05.10.2020
    • Sayeeda Hana: 13.11.2019
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    © CAGS 2024. All rights reserved.