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NM_025193.4:c.45_46del
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NM_025193.4:c.45_46del
HGVS Expressions
NG_012346.1:g.5506_5507del
NM_025193.4:c.45_46del
NP_079469.2:p.Gly17LeufsTer26
NC_000016.10:g.30985703_30985704del
Associated Genes
3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
786200876
Clinvar
2885
Epidemiology in the Arab World
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United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
607765.1
United Arab Emirates
2
Pathogenic
Bile Acid Synthesis Defect, Congenital, 1
Al-Shamsi et al. 2016
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Contributors
Pratibha Nair: 15.07.2020
Edit History
Pratibha Nair: 28.11.2022
Pratibha Nair: 23.08.2022
Sayeeda Hana: 05.10.2020
Pratibha Nair: 15.07.2020
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