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_000528.3:c.2119C>T
Home
NM_000528.3:c.2119C>T
HGVS Expressions
NG_008318.1:g.21628C>T
NM_000528.3:c.2119C>T
NP_000519.2:p.Gln707Ter
NC_000019.10:g.12650150G>A
Associated Genes
Mannosidase, Alpha, Class 2b, Member 1
Back to search Result
CTGA Clinical Significance
Likely Pathogenic, Pathogenic
Variant Type
Substitution
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
248500.3
United Arab Emirates
2
Likely Pathogenic
Mannosidosis, Alpha B, Lysosomal
Ben-Rebeh et al. 2012
248500.G.1
United Arab Emirates
6
Pathogenic
Mannosidosis, Alpha B, Lysosomal
Al-Jasmi et al. 2013
3 patients belonging to an Emirati tribe
Download Table
Contributors
Sayeeda Hana: 02.09.2020
Edit History
Pratibha Nair: 23.08.2022
Rahila Mir: 14.02.2022
Pratibha Nair: 27.09.2021
Sayeeda Hana: 02.09.2020
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.