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NM_001350748.2:c.1489del
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NM_001350748.2:c.1489del
HGVS Expressions
NG_053176.1:g.192677del
NM_001350748.2:c.1489del
NP_001337677.1:p.Tyr497fs
Associated Genes
Sodium Leak Channel, Nonselective
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Genomic Location
chr13:101229530
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
869025188
Clinvar
88686
Epidemiology in the Arab World
View Map
Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
615419.2.1
Saudi Arabia
2
Pathogenic
Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1
Al-Sayed et al. 2013
615419.2.2
Saudi Arabia
2
Pathogenic
Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1
Al-Sayed et al. 2013
Sibling of 615419.2.1
615419.2.3
Saudi Arabia
2
Pathogenic
Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1
Al-Sayed et al. 2013
First cousin once removed of 615419.2.1
615419.2.4
Saudi Arabia
1
Pathogenic
Al-Sayed et al. 2013
Father of 615419.2.1
615419.2.5
Saudi Arabia
1
Pathogenic
Al-Sayed et al. 2013
Mother of 615419.2.1
615419.2.6
Saudi Arabia
1
Pathogenic
Al-Sayed et al. 2013
Father of 615419.2.3
615419.2.7
Saudi Arabia
1
Pathogenic
Al-Sayed et al. 2013
Mother of 615419.2.3
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Contributors
Pratibha Nair: 20.04.2020
Edit History
Pratibha Nair: 20.04.2020
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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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