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NM_032470.3:c.*253G>A
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NM_032470.3:c.*253G>A
HGVS Expressions
NG_045215.1:g.3325C>T
NM_032470.3:c.*253G>A
NP_001122062.3:p.Arg454Trp
Associated Genes
Cytochrome P450, Family 21, Subfamily A, Polypeptide 2
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Genomic Location
Chr6:32041096
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
759736443
Epidemiology in the Arab World
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Tunisia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
201910.10
Tunisia
2
Pathogenic
Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency
Kharrat et al. 2004
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Contributors
Pratibha Nair: 11.10.2018
Edit History
Rahila Mir: 17.02.2022
Pratibha Nair: 13.01.2019
Pratibha Nair: 10.01.2019
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