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NM_004004.5:c.167del
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NM_004004.5:c.167del
HGVS Expressions
NG_008358.1:g.8561del
NM_004004.5:c.167del
NP_003995.2:p.Leu56ArgfsTer26
NC_000013.11:g.20189415del
Associated Genes
Gap Junction Protein, Beta-2
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Deletion
dbSNP
80338942
Clinvar
17010
Epidemiology in the Arab World
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All Countries
Algeria
Palestine
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
220290.1
Palestine
1
NA
Likely Pathogenic
Deafness, Autosomal Recessive 1A
Shahin et al. 2002
220290.G.2.2
Palestine
6
NA
Likely Pathogenic
Deafness, Autosomal Recessive 1A
Shahin et al. 2002
Group of 3 patients
220290.G.4.2
Algeria
2
NA
Likely Pathogenic
Deafness, Autosomal Recessive 1A
Ammar-Khodja et al. 2009
Unknown number of patients from an Alger...
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Contributors
Edit History
Pratibha Nair: 22.11.2022
Asha Deepthi: 11.03.2021
Asha Deepthi: 28.01.2019
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
Eritrea
Iraq
Jordan
Kuwait
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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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