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NM_004004.5:c.23C>T
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NM_004004.5:c.23C>T
HGVS Expressions
NG_008358.1:g.8417C>T
NM_004004.5:c.23C>T
NP_003995.2:p.Thr8Met
NC_000013.11:g.20189559G>A
Associated Genes
Gap Junction Protein, Beta-2
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CTGA Clinical Significance
Uncertain Significance
Variant Type
Substitution
dbSNP
529500747
Clinvar
379889
Epidemiology in the Arab World
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Egypt
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
220290.G.6.3
Egypt
2+
NA
Uncertain Significance
Deafness, Autosomal Recessive 1A
Snoeckx et al. 2005
Unknown number of patients from 2 unrela...
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Contributors
Edit History
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
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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