LARGE1, 42.9-KB INS/4.1-KB DEL

HGVS Expressions

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    Genomic Location

    22q12.3-q13.1

    Clinvar Clinical Significance

    Pathogenic

    CTGA Clinical Significance

    Pathogenic

    Variant Type

    Deletion

    Clinvar

    30365

    Epidemiology in the Arab World

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    Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
    608840.1.1Lebanon2PathogenicMuscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation), type B, 6Clarke et al. 2011
    608840.1.2Lebanon2PathogenicMuscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation), type B, 6Clarke et al. 2011 Sibling of 608840.1.1
    608840.1.3Lebanon1PathogenicClarke et al. 2011 Mother of 608840.1.1
    608840.1.4Lebanon1PathogenicClarke et al. 2011 Father of 608840.1.1
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