NM_006640.4:c.(22+1_23–1)_(293_668–1)dup

HGVS Expressions

    Associated Genes

    Septin 9
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    CTGA Clinical Significance

    Pathogenic

    Variant Type

    Duplication

    Epidemiology in the Arab World

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    Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
    162100.1.1Lebanon1PathogenicAmyotrophy, Hereditary NeuralgicNeubauer et al. 2019
    162100.1.2Lebanon1PathogenicAmyotrophy, Hereditary NeuralgicNeubauer et al. 2019 Sibling of 162100.1.1
    162100.1.3Lebanon1PathogenicAmyotrophy, Hereditary NeuralgicNeubauer et al. 2019 Father of 162100.1.1
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