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NM_000475.4:c.857_862del
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NM_000475.4:c.857_862del
HGVS Expressions
NG_009814.1:g.5872_5877del
NM_000475.4:c.857_862del
NP_000466.2:p.Leu286_Val287del
NC_000023.10:g.30326621ACCAGC[1]
Associated Genes
Nuclear Receptor Subfamily 0, Group B, Member 1
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
1601792367
Clinvar
623314
Epidemiology in the Arab World
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Oman
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
300200.2.1
Oman
2
Pathogenic
Adrenal Hypoplasia, Congenital
Walker et al. 2012
300200.2.2
Oman
2
Pathogenic
Adrenal Hypoplasia, Congenital
Walker et al. 2012
Brother of 300200.2.1
300200.2.3
Oman
2
Pathogenic
Adrenal Hypoplasia, Congenital
Walker et al. 2012
Brother of 300200.2.1
300200.2.4
Oman
2
Pathogenic
Adrenal Hypoplasia, Congenital
Walker et al. 2012
Brother of 300200.2.1
300200.G.1
Oman
14
Pathogenic
Adrenal Hypoplasia, Congenital
Walker et al. 2012
Relatives of 300200.2.1 (4 uncles and 3 ...
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Contributors
Sayeeda Hana: 13.08.2020
Edit History
Pratibha Nair: 21.11.2022
Sayeeda Hana: 16.08.2020
Sayeeda Hana: 13.08.2020
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Arab Countries with reported incidence
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