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NM_004004.5:c.-23+1G>A
Home
NM_004004.5:c.-23+1G>A
HGVS Expressions
NG_008358.1:g.5194G>A
NM_004004.5:c.-23+1G>A
NC_000013.11:g.20192782C>T
Associated Genes
Gap Junction Protein, Beta-2
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Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Likely Pathogenic, Pathogenic
Variant Type
Substitution
dbSNP
80338940
Clinvar
17029
Epidemiology in the Arab World
View Map
All Countries
Algeria
Egypt
Palestine
United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
220290.3
Palestine
1
NA
Pathogenic
Deafness, Autosomal Recessive 1A
Shahin et al. 2002
220290.4
Egypt
1
NA
Pathogenic
Deafness, Autosomal Recessive 1A
Snoeckx et al. 2005
220290.G.4.3
Algeria
1
NA
Pathogenic
Deafness, Autosomal Recessive 1A
Ammar-Khodja et al. 2009
Unknown number of patients from an Alger...
220290.G.4.8
Algeria
1
NA
Pathogenic
Deafness, Autosomal Recessive 1A
Ammar-Khodja et al. 2009
Unknown number of patients from an Alger...
220290.G.12
United Arab Emirates
6
Likely Pathogenic
Deafness, Autosomal Recessive 1A
Elsayed O and Al-Shamsi A. 2022
3 individuals with hearing loss
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Contributors
Edit History
Sami Bizzari: 18.10.2023
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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