NPHP1, DEL

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HGVS Expressions

    Associated Genes

    Nephrocystin 1
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    Clinvar Clinical Significance

    Pathogenic

    CTGA Clinical Significance

    Pathogenic

    Variant Type

    Deletion

    Clinvar

    3511

    Epidemiology in the Arab World

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    Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
    609583.1Lebanon2PathogenicJoubert Syndrome 4Jalkh et al. 2019 Joubert Syndrome
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    Contributors

    • Pratibha Nair: 17.11.2020

    Edit History

    • Pratibha Nair: 17.11.2020
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    © CAGS 2024. All rights reserved.