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NM_001128590.3:c.623T>A
Home
NM_001128590.3:c.623T>A
HGVS Expressions
NG_045215.1:g.2039T>A
NM_001128590.3:c.623T>A
NP_001122062.3:p.Val208Glu
NC_000006.12:g.32039810T>A
Associated Genes
Cytochrome P450, Family 21, Subfamily A, Polypeptide 2
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
12530380
Clinvar
12173
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
201910.21
Lebanon
1
Pathogenic
Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency
Delague et al, 2000
Carries the CL6 haplotype and two additi...
201910.25
Lebanon
2
Pathogenic
Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency
Delague et al, 2000
Carries the CL6 haplotype and an additio...
201910.30
Lebanon
1
Pathogenic
Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency
Delague et al, 2000
Carries the CL6 haplotype and an additio...
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Contributors
Pratibha Nair: 11.10.2018
Edit History
Pratibha Nair: 08.11.2022
Sami Bizzari: 10.06.2021
Pratibha Nair: 14.01.2019
Pratibha Nair: 13.01.2019
Pratibha Nair: 10.01.2019
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