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NM_002354.3:c.492-2A>G
Home
NM_002354.3:c.492-2A>G
HGVS Expressions
NG_012352.2:g.36850A>G
NM_002354.3:c.492-2A>G
NC_000002.12:g.47377012A>G
Associated Genes
Epithelial Cellular Adhesion Molecule
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
606231281
Clinvar
157604
Epidemiology in the Arab World
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Kuwait
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
613217.13
Kuwait
2
Likely Pathogenic
Diarrhea 5, with Tufting Enteropathy, Congenital
Pathak et al. 2019;
Salomon et al. 2014
613217.14
Kuwait
1
Likely Pathogenic
Diarrhea 5, with Tufting Enteropathy, Congenital
Pathak et al. 2019;
Salomon et al. 2014
613217.15.1
Kuwait
1
Likely Pathogenic
Diarrhea 5, with Tufting Enteropathy, Congenital
Pathak et al. 2019;
Salomon et al. 2014
613217.15.2
Kuwait
1
Likely Pathogenic
Diarrhea 5, with Tufting Enteropathy, Congenital
Salomon et al. 2011;
Pathak et al. 2019
Relative of 613217.15.1
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Contributors
Pratibha Nair: 09.10.2023
Edit History
Pratibha Nair: 16.10.2023
Pratibha Nair: 09.10.2023
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Arab Countries with reported incidence
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