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NM_004713.6:c.2871_2875dup
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NM_004713.6:c.2871_2875dup
HGVS Expressions
NG_051075.1:g.69034_69038dup
NM_004713.6:c.2871_2875dup
NP_004704.3:p.Asp959ValfsTer2
NC_000014.9:g.49789166_49789170dup
Associated Genes
Nuclear Export Mediator Factor
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Duplication
dbSNP
1890324880
Clinvar
986402
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
619099.2.1
Saudi Arabia
2
NA
Pathogenic
Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy
Martin et al. 2020
Patient from 'family SAU1' in the public...
619099.2.2
Saudi Arabia
2
NA
Pathogenic
Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy
Martin et al. 2020
Brother of 619099.2.1
619099.2.G
Saudi Arabia
3
NA
Martin et al. 2020
Unaffected relatives of 619099.2.1 (pare...
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Contributors
Asha Deepthi: 23.11.2022
Edit History
Asha Deepthi: 23.11.2022
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
Eritrea
Iraq
Jordan
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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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