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NM_080473.4:c.424T>C
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NM_080473.4:c.424T>C
HGVS Expressions
NG_046963.1:g.5873T>C
NM_080473.4:c.424T>C
NP_536721.1:p.Tyr142His
Associated Genes
GATA-Binding Protein 5
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Genomic Location
chr20:62475098
Clinvar Clinical Significance
Likely Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
111554140
Clinvar
420167
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
217095.1.1
Lebanon
2
Likely Pathogenic
Conotruncal Heart Malformations
Kassab et al, 2015
217095.1.2
Lebanon
1
Likely Pathogenic
Kassab et al, 2015
Mother of 217095.1.1
217095.1.3
Lebanon
1
Likely Pathogenic
Kassab et al, 2015
Father of 217095.1.1
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Contributors
Pratibha Nair: 29.01.2019
Edit History
Pratibha Nair: 29.01.2019
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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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