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_000518.5:c.90C>T
Home
NM_000518.5:c.90C>T
HGVS Expressions
NG_059281.1:g.5140C>T
NM_000518.5:c.90C>T
NP_000509.1:p.Gly30=
Associated Genes
Hemoglobin - Beta Locus
Back to search Result
Genomic Location
chr11:5226932
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic, Pathogenic
Variant Type
Substitution
dbSNP
35578002
Clinvar
38682
Epidemiology in the Arab World
View Map
All Countries
Iraq
Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
613985.G.1.3
Lebanon
4
0.036
Pathogenic
Beta-Thalassemia
Zahed et al, 1997
Unknown number of patients with unspecif...
613985.G.3.1
Lebanon
50
0.096
Pathogenic
Beta-Thalassemia
Makhoul et al. 2005
Patients with beta-plus-thalassemia from...
613985.G.24.1
Lebanon
13
0.07
Likely Pathogenic
Beta-Thalassemia
Farra et al. 2021
Mutations identified in 126 Lebanese pat...
613985.G.24.2
Iraq
1
0.03
Likely Pathogenic
Beta-Thalassemia
Farra et al. 2021
Mutation identified in 26 Iraqi patients...
Download Table
Contributors
Asha Deepthi: 13.05.2020
Edit History
Asha Deepthi: 30.07.2024
Asha Deepthi: 29.07.2024
Asha Deepthi: 07.07.2021
Asha Deepthi: 16.11.2020
Asha Deepthi: 14.05.2020
Asha Deepthi: 13.05.2020
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.