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NC_000023.11:g.76992100_77014098dup
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NC_000023.11:g.76992100_77014098dup
HGVS Expressions
NC_000023.11:g.76992100_77014098dup
Associated Genes
Magnesium Transporter 1
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Duplication
Epidemiology in the Arab World
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United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
300853.1
United Arab Emirates
1
Likely Pathogenic
Immunodeficiency, X-Linked, with Magnesium Defect, Epstein-Barr Virus Infection, and Neoplasia
Alabdullatif et al. 2017
Father has recurrent skin infections
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Contributors
Pratibha Nair: 20.06.2022
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Pratibha Nair: 20.06.2022
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