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NM_001350748.2:c.2845del
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NM_001350748.2:c.2845del
HGVS Expressions
NG_053176.1:g.317781del
NM_001350748.2:c.2845del
NP_001337677.1:p.Ile949fs
Associated Genes
Sodium Leak Channel, Nonselective
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Genomic Location
chr13:101104426
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
1594211334
Clinvar
684710
Epidemiology in the Arab World
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Egypt
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
615419.9
Egypt
2
Pathogenic
Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1
Bramswig et al. 2018
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Contributors
Pratibha Nair: 29.09.2020
Edit History
Pratibha Nair: 29.09.2020
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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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