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_001029896.2:c.19C>T
Home
NM_001029896.2:c.19C>T
HGVS Expressions
NG_033004.2:g.28094C>T
NM_001029896.2:c.19C>T
NP_001025067.1:p.Arg7Ter
NC_000023.11:g.49078077G>A
Associated Genes
WD Repeat-Containing Protein 45
Back to search Result
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
886041382
Clinvar
280098
Epidemiology in the Arab World
View Map
United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
300894.1
United Arab Emirates
1
Pathogenic
Neurodegeneration with Brain Iron Accumulation 5
Saleh et al. 2021
Father asymptomatic, but has mosaicism
300894.2
United Arab Emirates
1
NA
Pathogenic
Neurodegeneration with Brain Iron Accumulation 5
Mahfouz et al. 2020
Download Table
Contributors
Pratibha Nair: 13.09.2021
Edit History
Asha Deepthi: 18.07.2022
Pratibha Nair: 02.11.2021
Pratibha Nair: 13.09.2021
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.