4.2 kb del

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HGVS Expressions

    Associated Genes

    Hemoglobin--Alpha Locus 2
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    Clinvar Clinical Significance

    Pathogenic

    CTGA Clinical Significance

    Likely Pathogenic

    Variant Type

    Deletion

    Clinvar

    375752

    Epidemiology in the Arab World

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    Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
    604131.11.5United Arab Emirates1Likely PathogenicEl-Kalla and Baysal, 1998 Identified through testing 418 consecuti...
    604131.11.G.6United Arab Emirates5Likely PathogenicEl-Kalla and Baysal, 1998 5 heterozygotes identified through testi...
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    Contributors

    • Sayeeda Hana: 24.11.2020

    Edit History

    • Pratibha Nair: 25.01.2023
    • Pratibha Nair: 24.01.2023
    • Sayeeda Hana: 25.08.2021
    • Sayeeda Hana: 24.11.2020
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    © CAGS 2024. All rights reserved.