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NM_024006.6:c.292C>T
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NM_024006.6:c.292C>T
HGVS Expressions
NG_011564.1:g.8622C>T
NM_024006.6:c.292C>T
NP_076869.1:p.Arg98Trp
Associated Genes
Vitamin K Epoxide Reductase Complex, Subunit 1
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Genomic Location
chr16:31091334
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
72547528
Clinvar
2206
Epidemiology in the Arab World
View Map
Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
607473.1.1
Lebanon
2
Pathogenic
Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2
Rost et al. 2004;
Oldenburg et al. 2000
607473.1.2
Lebanon
2
Pathogenic
Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2
Rost et al. 2004
Sibling of 607473.1.1
607473.1.3
Lebanon
2
Pathogenic
Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2
Rost et al. 2004;
Oldenburg et al. 2000
Sibling of 607473.1.1
607473.1.4
Lebanon
2
Pathogenic
Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2
Rost et al. 2004;
Oldenburg et al. 2000
Sibling of 607473.1.1
607473.1.5
Lebanon
2
Pathogenic
Vitamin K-Dependent Clotting Factors, Combined Deficiency of, 2
Rost et al. 2004;
Oldenburg et al. 2000
Sibling of 607473.1.1
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Contributors
Pratibha Nair: 12.04.2020
Edit History
Pratibha Nair: 12.04.2020
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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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