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NM_001291867.2:c.2295del
Home
NM_001291867.2:c.2295del
HGVS Expressions
NG_011553.2:g.355982del
NM_001291867.2:c.2295del
NP_001278796.1:p.Lys765AsnfsTer15
NC_000023.11:g.17726401del
Associated Genes
NHS Gene
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CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
Epidemiology in the Arab World
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Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
302350.1.1
Saudi Arabia
1
Pathogenic
Nance-Horan Syndrome
Khan et al. 2012;
Patel et al. 2017
Belongs to a large multiplex Saudi famil...
302350.1.2
Saudi Arabia
1
Pathogenic
Nance-Horan Syndrome
Khan et al. 2012;
Patel et al. 2017
Sister of 302350.1.1
302350.1.3
Saudi Arabia
1
Pathogenic
Nance-Horan Syndrome
Khan et al. 2012;
Patel et al. 2017
Nephew of 302350.1.1
302350.1.4
Saudi Arabia
1
Pathogenic
Nance-Horan Syndrome
Khan et al. 2012;
Patel et al. 2017
Nephew of 302350.1.1
302350.1.5
Saudi Arabia
1
Pathogenic
Nance-Horan Syndrome
Khan et al. 2012;
Patel et al. 2017
Nephew of 302350.1.1
302350.1.6
Saudi Arabia
1
Pathogenic
Nance-Horan Syndrome
Khan et al. 2012;
Patel et al. 2017
Nephew of 302350.1.1
302350.1.G.1
Saudi Arabia
4
Pathogenic
Nance-Horan Syndrome
Khan et al. 2012
4 asymptomatic females with bilateral le...
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Contributors
Sayeeda Hana: 09.03.2023
Edit History
Sayeeda Hana: 09.03.2023
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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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