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NM_054012.4:c.535T>C
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NM_054012.4:c.535T>C
HGVS Expressions
NG_011542.1:g.31167T>C
NM_054012.4:c.535T>C
NP_000041.2:p.Trp179Arg
NC_000009.12:g.130470873T>C
Associated Genes
Argininosuccinate Synthetase 1
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic, Pathogenic
Variant Type
Substitution
dbSNP
121908646
Clinvar
6335
Epidemiology in the Arab World
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All Countries
Lebanon
Qatar
Syria
United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
215700.G.1
United Arab Emirates
Pathogenic
Citrullinemia, Classic
Al-Shamsi et al. 2014
Unknown number of patients with Citrulli...
215700.G.3
Syria
NA
Likely Pathogenic
Citrullinemia, Classic
Al-Jasmi at al. 2016
UAE resident(s) of Syrian origin. Number...
215700.G.6
Lebanon
4+
Pathogenic
Citrullinemia, Classic
Daou et al. 2023
Family with unknown number of affected m...
215700.G.7
Lebanon
2+
Pathogenic
Citrullinemia, Classic
Daou et al. 2023
Family with unknown number of affected m...
603470.G.1
Qatar
8
0.009
Likely Pathogenic
Devadoss Gandhi et al. 2024
8 individuals from a study of 14,060 Qat...
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Contributors
Edit History
Sayeeda Hana: 10.01.2025
Sayeeda Hana: 20.11.2024
Sami Bizzari: 24.01.2024
Asha Deepthi: 10.06.2021
Asha Deepthi: 08.07.2020
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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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