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NM_021973.3:c.605G>T
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NM_021973.3:c.605G>T
HGVS Expressions
NG_046954.1:g.7902G>T
NM_021973.3:c.605G>T
NP_068808.1:p.Gly202Val
Associated Genes
Heart- and Neural Crest Derivatives-Expressed 2
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Genomic Location
chr4:173527326
CTGA Clinical Significance
Likely Pathogenic
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
602407.1.1
Lebanon
1
Likely Pathogenic
Tetralogy of Fallot
Khalil et al. 2017
Member of a large family with various f...
602407.1.2
Lebanon
1
Likely Pathogenic
Coarctation of Aorta
Khalil et al. 2017
Sibling of 602407.1.1. Member of a larg...
602407.1.3
Lebanon
1
Likely Pathogenic
Tetralogy of Fallot
Khalil et al. 2017
Son of 602407.1.2. Member of a large fa...
602407.1.4
Lebanon
1
Likely Pathogenic
Tetralogy of Fallot
Khalil et al. 2017
First cousin of 602407.1.1. Member of a...
602407.1.5
Lebanon
1
Likely Pathogenic
Coarctation of Aorta
Khalil et al. 2017
First cousin of 602407.1.1. Member of a...
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Contributors
Pratibha Nair: 04.05.2020
Edit History
Pratibha Nair: 08.09.2022
Rahila Mir: 14.02.2022
Pratibha Nair: 04.05.2020
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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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