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NM_014249.4:c.932G>A
Home
NM_014249.4:c.932G>A
HGVS Expressions
NG_009113.2:g.8019G>A
NM_014249.4:c.932G>A
NP_055064.1:p.Arg311Gln
NC_000015.10:g.71813573G>A
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
28937873
Clinvar
5532
Epidemiology in the Arab World
View Map
All Countries
Morocco
Palestine
Saudi Arabia
United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
268100.1.1
United Arab Emirates
2
Pathogenic
Enhanced S-Cone Syndrome
Chavala et al. 2005
268100.1.2
United Arab Emirates
2
Pathogenic
Enhanced S-Cone Syndrome
Chavala et al. 2005
Sibling of 268100.1.1
268100.1.3
United Arab Emirates
1
Pathogenic
Chavala et al. 2005
Unaffected sibling of 268100.1.1
268100.6
United Arab Emirates
2
Likely Pathogenic
Enhanced S-Cone Syndrome
Khan. 2020
611131.1.1
Saudi Arabia
2
Pathogenic
Retinitis Pigmentosa 37
Patel et al, 2018
611131.2.1
Palestine
2
Pathogenic
Retinitis Pigmentosa 37
Bandah et al. 2009
The patient had a maternal aunt and 3 ma...
611131.3.1
Morocco
2
Pathogenic
Retinitis Pigmentosa 37
Bandah et al. 2009
268100.G.1
Saudi Arabia
6
Pathogenic
Enhanced S-Cone Syndrome
Patel et al, 2018
3 members of a family
268100.G.2
Saudi Arabia
4
Pathogenic
Enhanced S-Cone Syndrome
Patel et al, 2018
2 members of a family
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Contributors
Sayeeda Hana: 08.06.2020
Edit History
Asha Deepthi: 30.05.2021
Sayeeda Hana: 17.06.2020
Sayeeda Hana: 09.06.2020
Sayeeda Hana: 08.06.2020
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Algeria
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Comoros
Country not specified
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Libya
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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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