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NM_005584.5:c.279_286del
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NM_005584.5:c.279_286del
HGVS Expressions
NG_028156.1:g.538574_538567del
NP_005575.1:p.Ser93fs*48
Associated Genes
MAB21-Like 1
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Genomic Location
chr13:35475860-35475853
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
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
618479.1
Lebanon
2
Pathogenic
Rad et al. 2018
Elder sister reported to have hydrocepha...
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Contributors
Pratibha Nair: 04.10.2020
Edit History
Rahila Mir: 17.02.2022
Sayeeda Hana: 05.10.2020
Pratibha Nair: 04.10.2020
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Algeria
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Comoros
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Mauritania
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Qatar
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United Arab Emirates
Yemen
Arab Countries with reported incidence
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