MERTK, 9-KB DEL

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HGVS Expressions

    Associated Genes

    MER Tyrosine Kinase Protooncogene
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    Clinvar Clinical Significance

    Pathogenic

    CTGA Clinical Significance

    Pathogenic

    Variant Type

    Deletion

    Clinvar

    37302

    Epidemiology in the Arab World

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    Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
    613862.1.1Arab2PathogenicRetinitis Pigmentosa 38Mackay et al. 2010 Proband
    613862.1.2Arab2PathogenicRetinitis Pigmentosa 38Mackay et al. 2010 Brother of 613862.1.1
    613862.1.3Arab1Mackay et al. 2010 Father of 613862.1.1
    613862.1.4Arab1Mackay et al. 2010 Mother of 613862.1.1
    613862.1.5Arab1Mackay et al. 2010 Brother of 613862.1.1
    613862.1.6Arab1Mackay et al. 2010 Sister of 613862.1.1
    613862.1.7Arab1Mackay et al. 2010 Brother of 613862.1.1
    613862.G.2Saudi Arabia10PathogenicRetinitis Pigmentosa 38Mackay et al. 2010 5 affected members of a family
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    Contributors

    • Sayeeda Hana: 22.07.2020

    Edit History

    • Sayeeda Hana: 05.10.2020
    • Sayeeda Hana: 23.07.2020
    • Sayeeda Hana: 22.07.2020
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    © CAGS 2024. All rights reserved.