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NM_000053.4:c.3007G>A
Home
NM_000053.4:c.3007G>A
HGVS Expressions
NG_008806.1:g.70158G>A
NM_000053.4:c.3007G>A
NP_000044.2:p.Ala1003Thr
NC_000013.11:g.51946337C>T
Associated Genes
ATPase, Cu(2+)-Transporting, Beta Polypeptide
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
201497300
Clinvar
188802
Epidemiology in the Arab World
View Map
Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
277900.34.3
Lebanon
1
Pathogenic
Wilson Disease
Usta et al, 2014
Relative of 277900.34.1
277900.34.4
Lebanon
1
Pathogenic
Wilson Disease
Usta et al, 2014
Relative of 277900.34.1
277900.34.5
Lebanon
1
Pathogenic
Wilson Disease
Usta et al, 2014
Relative of 277900.34.1
277900.34.6
Lebanon
1
Pathogenic
Wilson Disease
Usta et al, 2014
Relative of 277900.34.1
277900.34.G.2
Lebanon
12
Pathogenic
Usta et al, 2014
Unaffected carriers belonging to the sam...
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Contributors
Sayeeda Hana: 27.08.2019
Edit History
Pratibha Nair: 22.11.2022
Sayeeda Hana: 03.03.2020
Sayeeda Hana: 27.08.2019
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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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