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NM_001302688.2:c.604C>T
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NM_001302688.2:c.604C>T
HGVS Expressions
NG_007084.2:g.8041C>T
NM_001302688.2:c.604C>T
NP_001289617.1:p.Arg202Cys
Associated Genes
Apolipoprotein E
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Genomic Location
chr19:44908822
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Benign, Likely Benign, Pathogenic
Variant Type
Substitution
dbSNP
7412
Clinvar
441266
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
104300.G.1.1
Lebanon
0.06
Likely Benign
El Shamieh et al. 2018
78 patients with Alzheimer disease
104300.G.1.2
Lebanon
0.06
Likely Benign
El Shamieh et al. 2018
56 control subjects over the age of 60
107741.G.1
Lebanon
23
0.072
Pathogenic
Mahfouz et al. 2006
160 healthy control subjects
107741.G.2
Lebanon
22
Pathogenic
Almawi et al. 1999
155 healthy control subjects
107741.G.3
Lebanon
0.07
Benign
El Shamieh et al. 2018
457 healthy control subjects. c.466C>T w...
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Contributors
Pratibha Nair: 03.05.2020
Edit History
Pratibha Nair: 04.10.2020
Pratibha Nair: 03.05.2020
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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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