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NM_022336.3:c.803+1G>A
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NM_022336.3:c.803+1G>A
HGVS Expressions
NG_008257.1:g.83914G>A
NM_022336.3:c.803+1G>A
Associated Genes
Ectodysplasia A Receptor
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Genomic Location
chr2:108910459
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
797044437
Clinvar
5860
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
224900.1.1
Lebanon
2
Pathogenic
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Mégarbané et al, 2008
224900.1.2
Lebanon
1
Pathogenic
Mégarbané et al, 2008
Mother of 224900.1.1
224900.1.3
Lebanon
1
Pathogenic
Mégarbané et al, 2008
Father of 224900.1.1
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Contributors
Pratibha Nair: 17.03.2019
Edit History
Pratibha Nair: 17.03.2019
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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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