العربية
About Us
News
Fellowships
العربية
Home
About Us
CTGA Database
CTGA Overview
Search Database
Submit to Database
Publications
Research Articles
Genetics Made Easy
Genetic Disorders in the Arab World
Reports
Conferences & Events
News
Gallery
Fellowships
Contact Us
NM_004004.5:c.139G>T
Home
NM_004004.5:c.139G>T
HGVS Expressions
NG_008358.1:g.8533G>T
NM_004004.5:c.139G>T
NP_003995.2:p.Glu47Ter
NC_000013.11:g.20189443C>A
Associated Genes
Gap Junction Protein, Beta-2
Back to search Result
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
104894398
Clinvar
17005
Epidemiology in the Arab World
View Map
All Countries
Algeria
Tunisia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
220290.G.3.2
Tunisia
2
NA
Pathogenic
Deafness, Autosomal Recessive 1A
Masmoudi et al. 2000
Unknown number of patients from a Tunisi...
220290.G.3.3
Tunisia
1
NA
Pathogenic
Deafness, Autosomal Recessive 1A
Masmoudi et al. 2000
Unknown number of patients from a Tunisi...
220290.G.4.4
Algeria
2
NA
Pathogenic
Deafness, Autosomal Recessive 1A
Ammar-Khodja et al. 2009
Unknown number of patients from 2 famili...
220290.G.5.5
Tunisia
4
NA
Pathogenic
Deafness, Autosomal Recessive 1A
Denoyelle et al. 1997
2 patients from family 'ST' in the publi...
Download Table
Contributors
Edit History
Asha Deepthi: 11.03.2021
Asha Deepthi: 28.01.2019
Back to search Result
×
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
© CAGS 2024. All rights reserved.