ECM1, 1163-BP DEL

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HGVS Expressions

    Associated Genes

    Extracellular Matrix Protein 1
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    Clinvar Clinical Significance

    Pathogenic

    CTGA Clinical Significance

    Pathogenic

    Variant Type

    Deletion

    Clinvar

    7473

    Epidemiology in the Arab World

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    Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
    247100.7.1Saudi Arabia2PathogenicLipoid Proteinosis of Urbach and WietheSalih et al. 2011
    247100.7.2Saudi Arabia2PathogenicLipoid Proteinosis of Urbach and WietheSalih et al. 2011 Brother of 247100.7.1
    247100.7.3Saudi Arabia2PathogenicLipoid Proteinosis of Urbach and WietheSalih et al. 2011 Brother of 247100.7.1
    247100.7.4Saudi Arabia1PathogenicSalih et al. 2011 Unaffected mother of 247100.7.1 (Father ...
    247100.8.1Saudi Arabia2PathogenicLipoid Proteinosis of Urbach and WietheHamada et al. 2002
    247100.8.2Saudi Arabia2PathogenicLipoid Proteinosis of Urbach and WietheHamada et al. 2002 Sibling of 247100.8.1
    247100.8.3Saudi Arabia2PathogenicLipoid Proteinosis of Urbach and WietheHamada et al. 2002 Sibling of 247100.8.1
    247100.8.4Saudi Arabia2PathogenicLipoid Proteinosis of Urbach and WietheHamada et al. 2002 Sibling of 247100.8.1
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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.