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NM_014249.4:c.119-2A>C
Home
NM_014249.4:c.119-2A>C
HGVS Expressions
NG_009113.2:g.5927A>C
NM_014249.4:c.119-2A>C
NP_055064.1:p.?
NC_000015.10:g.71811481A>C
Associated Genes
Nuclear Receptor Subfamily 2, Group E, Member 3
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Likely Pathogenic, Pathogenic
Variant Type
Substitution
dbSNP
2723341
Clinvar
191059
Epidemiology in the Arab World
View Map
All Countries
Palestine
United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
268100.2.1
Palestine
2
Pathogenic
Enhanced S-Cone Syndrome
Bandah et al. 2009
The patient had two affected sisters who...
268100.2.2
Palestine
1
Pathogenic
Bandah et al. 2009
Unaffected father of 268100.2.1
268100.3.1
Palestine
2
Pathogenic
Enhanced S-Cone Syndrome
Bandah et al. 2009
268100.3.2
Palestine
2
Pathogenic
Enhanced S-Cone Syndrome
Bandah et al. 2009
Sister of 268100.3.1
268100.3.3
Palestine
1
Pathogenic
Bandah et al. 2009
Unaffected father of 268100.3.1
268100.3.4
Palestine
1
Pathogenic
Bandah et al. 2009
Unaffected mother of 268100.3.1
268100.4.1
Palestine
2
Pathogenic
Enhanced S-Cone Syndrome
Bandah et al. 2009
268100.4.2
Palestine
2
Pathogenic
Enhanced S-Cone Syndrome
Bandah et al. 2009
Sister of 268100.4.1
268100.5.1
Palestine
2
Pathogenic
Enhanced S-Cone Syndrome
Bandah et al. 2009
268100.5.2
Palestine
1
Pathogenic
Bandah et al. 2009
Unaffected brother of 268100.5.1
268100.5.3
Palestine
1
Pathogenic
Bandah et al. 2009
Unaffected father of 268100.5.1
268100.5.4
Palestine
1
Pathogenic
Bandah et al. 2009
Unaffected mother of 268100.5.1
268100.7
United Arab Emirates
2
Likely Pathogenic
Enhanced S-Cone Syndrome
Khan. 2020
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Contributors
Sayeeda Hana: 08.06.2020
Edit History
Sayeeda Hana: 07.12.2022
Asha Deepthi: 30.05.2021
Sayeeda Hana: 09.06.2020
Sayeeda Hana: 08.06.2020
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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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