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NM_004713.6:c.1234_1235insC
Home
NM_004713.6:c.1234_1235insC
HGVS Expressions
NG_051075.1:g.29398_29399insC
NM_004713.6:c.1234_1235insC
NP_004704.3:p.Asn412ThrfsTer11
NC_000014.9:g.49828805_49828806insG
Associated Genes
Nuclear Export Mediator Factor
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Insertion
dbSNP
1892495985
Clinvar
986405
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
619099.5.1
Saudi Arabia
2
NA
Pathogenic
Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy
Ahmed et al. 2021
Patient from 'family 4' in the publicati...
619099.5.2
Saudi Arabia
1
NA
Ahmed et al. 2021
Father of 619099.5.1
619099.5.3
Saudi Arabia
1
NA
Ahmed et al. 2021
Mother of 619099.5.1
619099.6.1
Saudi Arabia
2
NA
Pathogenic
Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy
Ahmed et al. 2021
Patient from 'family 5' in the publicati...
619099.6.2
Saudi Arabia
1
NA
Ahmed et al. 2021
Father of 619099.6.1
619099.6.3
Saudi Arabia
1
NA
Ahmed et al. 2021
Mother of 619099.6.1
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Contributors
Asha Deepthi: 29.11.2022
Edit History
Asha Deepthi: 29.11.2022
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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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