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NM_000497.3:c.1210dup
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NM_000497.3:c.1210dup
HGVS Expressions
NG_007954.1:g.9676dup
NM_000497.3:c.1210dup
NP_000488.3:p.Arg404ProfsTer18
NC_000008.11:g.142875145dup
Associated Genes
Cytochrome P450, Subfamily XIB, Polypeptide 1
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CTGA Clinical Significance
Pathogenic
Variant Type
Duplication
Epidemiology in the Arab World
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Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
202010.1.1
Lebanon
2
Pathogenic
Adrenal Hyperplasia, Congenital, due to 11-Beta-Hydroxylase Deficiency
Soardi et al, 2009
Proband
202010.1.2
Lebanon
1
Pathogenic
Soardi et al, 2009
Unaffected mother of the proband 202010....
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Contributors
Sayeeda Hana: 21.06.2019
Edit History
Pratibha Nair: 09.06.2021
Sayeeda Hana: 21.06.2019
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Algeria
Bahrain
Comoros
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Arab Countries with reported incidence
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