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NM_000527.4:c.272del
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NM_000527.4:c.272del
HGVS Expressions
NG_009060.1:g.18365del
NM_000527.4:c.272del
NP_000518.1:p.Gly91fs
Associated Genes
Low Density Lipoprotein Receptor
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Genomic Location
chr19:11102745
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
1568592055
Clinvar
623312
Epidemiology in the Arab World
View Map
Oman
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
143890.48.1
Oman
2
Pathogenic
Hypercholesterolemia, Familial, 1
Al-Hinai et al. 2013;
Al-Rasadi et al, 2014
Proband
143890.48.2
Oman
2
Pathogenic
Hypercholesterolemia, Familial, 1
Al-Hinai et al. 2013;
Al-Rasadi et al, 2014
Father of 143890.48.1
143890.48.3
Oman
2
Pathogenic
Hypercholesterolemia, Familial, 1
Al-Hinai et al. 2013;
Al-Rasadi et al, 2014
Sister of 143890.48.1
143890.48.4
Oman
2
Pathogenic
Hypercholesterolemia, Familial, 1
Al-Hinai et al. 2013;
Al-Rasadi et al, 2014
Sister of 143890.48.1
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Contributors
Sayeeda Hana: 07.05.2020
Edit History
Sayeeda Hana: 04.10.2020
Sayeeda Hana: 07.05.2020
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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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