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NM_000784.4:c.1263+1G>A
Home
NM_000784.4:c.1263+1G>A
HGVS Expressions
NG_007959.1:g.37711G>A
NM_000784.4:c.1263+1G>A
NP_000775.1:p.?
NC_000002.12:g.218814459G>A
Associated Genes
Cytochrome P450, Subfamily XXVIIA, Polypeptide 1
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
397515355
Clinvar
4262
Epidemiology in the Arab World
View Map
Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
213700.1.1
Saudi Arabia
2
Pathogenic
Cerebrotendinous Xanthomatosis
Khan et al. 2015;
Aldahmesh et al. 2012;
Khan et al. 2013;
Patel et al. 2017
213700.1.2
Saudi Arabia
2
Pathogenic
Cerebrotendinous Xanthomatosis
Khan et al. 2015;
Aldahmesh et al. 2012;
Khan et al. 2013;
Patel et al. 2017
Sister of 213700.1.1
213700.1.3
Saudi Arabia
2
Pathogenic
Cerebrotendinous Xanthomatosis
Khan et al. 2015;
Aldahmesh et al. 2012;
Khan et al. 2013;
Patel et al. 2017
Brother of 213700.1.1
213700.1.4
Saudi Arabia
1
Khan et al. 2015;
Aldahmesh et al. 2012;
Khan et al. 2013
Father of 213700.1.1. "Slit-lamp examina...
213700.1.5
Saudi Arabia
1
Khan et al. 2015;
Aldahmesh et al. 2012;
Khan et al. 2013
Mother of 213700.1.1. "Slit-lamp examina...
213700.1.6
Saudi Arabia
1
Khan et al. 2015;
Aldahmesh et al. 2012;
Khan et al. 2013
Sister of 213700.1.1. "There were no fle...
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Contributors
Sayeeda Hana: 08.02.2023
Edit History
Sayeeda Hana: 08.02.2023
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
Eritrea
Iraq
Jordan
Kuwait
Lebanon
Libya
Mauritania
Morocco
Oman
Palestine
Qatar
Saudi Arabia
Somalia
Sudan
Syria
Tunisia
United Arab Emirates
Yemen
Arab Countries with reported incidence
Arab Countries without reported incidence
Non-Arab Countries
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