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NM_001122659.3:c.1025G>T
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NM_001122659.3:c.1025G>T
HGVS Expressions
NM_001122659.3:c.1025G>T
NP_001116131.1:p.Ser342Ile
NC_000013.11:g.77900581C>A
Associated Genes
Endothelin Receptor, Type B
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Variant Type
Substitution
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
277580.1.1
Lebanon
2
Waardenburg Syndrome, Type 4A
Haddad et al., 2011
277580.1.2
Lebanon
1
Haddad et al., 2011
Father of 277580.1.1
277580.1.3
Lebanon
1
Haddad et al., 2011
Mother of 277580.1.1
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Contributors
Asha Deepthi: 28.11.2019
Edit History
Pratibha Nair: 09.06.2021
Asha Deepthi: 28.11.2019
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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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