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NM_001170416.1:c.570_574dup
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NM_001170416.1:c.570_574dup
HGVS Expressions
NG_016342.2:g.125115_125119dup
NM_001170416.1:c.570_574dup
NP_001163887.1:p.Leu192ProfsTer3
NC_000009.12:g.69221021_69221025dup
Associated Genes
Tight Junction Protein 2
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CTGA Clinical Significance
Pathogenic
Variant Type
Duplication
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
615219.7
Kuwait
2
Pathogenic
Cholestasis, Progressive Familial Intrahepatic, 4
Shaheen et al. 2017
Patient has 2 distinct disorders- Hydroc...
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Contributors
Sayeeda Hana: 13.10.2022
Edit History
Sayeeda Hana: 13.10.2022
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