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NM_000053.3:c.3373_3377delATAinsTCT
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NM_000053.3:c.3373_3377delATAinsTCT
HGVS Expressions
NG_008806.1:g.74070_74074delATAinsTCT
NM_000053.3:c.3373_3377delATAinsTCT
NP_000044.2:p.His1126fs
Associated Genes
ATPase, Cu(2+)-Transporting, Beta Polypeptide
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Genomic Location
Chr13:51942421_51942425
CTGA Clinical Significance
Pathogenic
Variant Type
Indel
Epidemiology in the Arab World
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Egypt
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
277900.G.7
Egypt
8
Pathogenic
Wilson Disease
Abdel Ghaffar et al. 2011
4 patients
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Contributors
Pratibha Nair: 13.06.2018
Edit History
Rahila Mir: 22.02.2022
Pratibha Nair: 30.12.2018
Pratibha Nair: 27.12.2018
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Algeria
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Comoros
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Arab Countries with reported incidence
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