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NM_001350748.2:c.321G>A
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NM_001350748.2:c.321G>A
HGVS Expressions
NG_053176.1:g.43583G>A
NM_001350748.2:c.321G>A
NP_001337677.1:p.Trp107Ter
Associated Genes
Sodium Leak Channel, Nonselective
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Genomic Location
chr13:101378624
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
1594761911
Clinvar
684709
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
615419.8.1
Saudi Arabia
2
Pathogenic
Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1
Bramswig et al. 2018
615419.8.2
Saudi Arabia
2
Pathogenic
Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1
Bramswig et al. 2018
Sibling of 615419.8.1
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Contributors
Pratibha Nair: 28.09.2020
Edit History
Pratibha Nair: 29.09.2020
Pratibha Nair: 28.09.2020
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