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NM_001350748.2:c.2758del
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NM_001350748.2:c.2758del
HGVS Expressions
NG_053176.1:g.317591del
NM_001350748.2:c.2758del
NP_001337677.1:p.Val920fs
Associated Genes
Sodium Leak Channel, Nonselective
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Genomic Location
chr13:101104618
Clinvar Clinical Significance
Likely Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
1594211911
Clinvar
813894
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
615419.10.1
Egypt
2
Pathogenic
Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1
Bramswig et al. 2018
615419.10.2
Egypt
2
Pathogenic
Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1
Bramswig et al. 2018
Sibling of 615419.10.1
615419.11
Egypt
2
Pathogenic
Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1
Bramswig et al. 2018
Had a similarly affected deceased cousin
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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
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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