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NM_000053.3:c.2071G>A
Home
NM_000053.3:c.2071G>A
HGVS Expressions
NG_008806.1:g.56297G>A
NM_000053.3:c.2071G>A
NP_000044.2:p.Gly691Arg
NC_000013.11:g.51960198C>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
121908001
Clinvar
3866
Epidemiology in the Arab World
View Map
Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
277900.30.1
Lebanon
2
Pathogenic
Wilson Disease
Barada et al, 2007
Sibling of 277900.29.2, 277900.29.3, 277...
277900.30.2
Lebanon
2
Pathogenic
Wilson Disease
Barada et al, 2007
Detected by screening
277900.30.3
Lebanon
2
Pathogenic
Wilson Disease
Barada et al, 2007
Detected by screening
277900.30.4
Lebanon
2
Pathogenic
Wilson Disease
Barada et al, 2007
Detected by screening
277900.30.5
Lebanon
2
Pathogenic
Wilson Disease
Barada et al, 2007
First cousin once removed of 277900.29.1...
277900.30.6
Lebanon
1
Pathogenic
Barada et al, 2007
277900.30.7
Lebanon
1
Pathogenic
Barada et al, 2007
277900.30.8
Lebanon
1
Pathogenic
Barada et al, 2007
277900.30.9
Lebanon
1
Pathogenic
Barada et al, 2007
Mother of 277900.29.1, 277900.29.2, 2779...
277900.30.10
Lebanon
1
Pathogenic
Barada et al, 2007
Father of 277900.29.1, 277900.29.2, 2779...
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Contributors
Pratibha Nair: 13.06.2018
Edit History
Pratibha Nair: 12.10.2022
Pratibha Nair: 30.12.2018
Pratibha Nair: 27.12.2018
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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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