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_003647.2:c.325A>G
Home
NM_003647.2:c.325A>G
HGVS Expressions
NG_033888.1:g.6022A>G
NM_003647.2:c.325A>G
NP_003638.1:p.Lys109Glu
NC_000017.11:g.56835120A>G
Associated Genes
Diacylglycerol Kinase, Epsilon, 64-kD
Back to search Result
CTGA Clinical Significance
Likely 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
615008.2.1
United Arab Emirates
2
Likely Pathogenic
Nephrotic Syndrome, Type 7
Azukaitis et al. 2017
The patient had an additional affected s...
615008.2.2
United Arab Emirates
2
Likely Pathogenic
Nephrotic Syndrome, Type 7
Azukaitis et al. 2017
Brother of 615008.2.1
Download Table
Contributors
Sayeeda Hana: 15.08.2021
Edit History
Pratibha Nair: 03.01.2023
Rahila Mir: 09.02.2022
Sayeeda Hana: 15.08.2021
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.