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NM_004004.5:c.229T>C
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NM_004004.5:c.229T>C
HGVS Expressions
NG_008358.1:g.8623T>C
NM_004004.5:c.229T>C
NP_003995.2:p.Trp77Arg
NC_000013.11:g.20189353A>G
Associated Genes
Gap Junction Protein, Beta-2
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
104894397
Clinvar
17003
Epidemiology in the Arab World
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Palestine
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
220290.2
Palestine
2
NA
Pathogenic
Deafness, Autosomal Recessive 1A
Shahin et al. 2002
220290.G.7.2
Palestine
2
NA
Pathogenic
Deafness, Autosomal Recessive 1A
Carrasquillo et al. 1997
Unknown number of patients in a group of...
220290.G.7.3
Palestine
1
NA
Pathogenic
Deafness, Autosomal Recessive 1A
Carrasquillo et al. 1997
Unknown number of compound heterozygous ...
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Contributors
Edit History
Asha Deepthi: 11.03.2021
Asha Deepthi: 29.01.2019
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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