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LARGE1, 42.9-KB INS/4.1-KB DEL
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LARGE1, 42.9-KB INS/4.1-KB DEL
HGVS Expressions
Associated Genes
Acetylglucosaminyltransferase-Like Protein
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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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Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
608840.1.1
Lebanon
2
Pathogenic
Muscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation), type B, 6
Clarke et al. 2011
608840.1.2
Lebanon
2
Pathogenic
Muscular Dystrophy-Dystroglycanopathy (Congenital with Mental Retardation), type B, 6
Clarke et al. 2011
Sibling of 608840.1.1
608840.1.3
Lebanon
1
Pathogenic
Clarke et al. 2011
Mother of 608840.1.1
608840.1.4
Lebanon
1
Pathogenic
Clarke et al. 2011
Father of 608840.1.1
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Contributors
Pratibha Nair: 29.03.2020
Edit History
Sami Bizzari: 13.09.2020
Pratibha Nair: 29.03.2020
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
Eritrea
Iraq
Jordan
Kuwait
Lebanon
Libya
Mauritania
Morocco
Oman
Palestine
Qatar
Saudi Arabia
Somalia
Sudan
Syria
Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
Arab Countries without reported incidence
Non-Arab Countries
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