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_004836.7:c.1570_1573del
Home
NM_004836.7:c.1570_1573del
HGVS Expressions
NG_016424.1:g.46652GAAA[1]
NM_004836.7:c.1570_1573del
NP_004827.4:p.Lys523_Glu524insTer
NC_000002.12:g.88585918TTTC[1]
Associated Genes
Eukaryotic Translation Initiation Factor 2-Alpha Kinase 3
Back to search Result
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Microsatellite
dbSNP
1558652941
Clinvar
5877
Epidemiology in the Arab World
View Map
All Countries
Saudi Arabia
United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
226980.1.1
Saudi Arabia
2
Pathogenic
Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus
Bonthron et al. 1998;
Brickwood et al. 2003
The patient had a younger brother with D...
226980.1.2
Saudi Arabia
1
Bonthron et al. 1998;
Brickwood et al. 2003
Father of 226980.1.1
226980.1.3
Saudi Arabia
1
Bonthron et al. 1998;
Brickwood et al. 2003
Mother of 226980.1.1
226980.1.4
Saudi Arabia
1
Bonthron et al. 1998;
Brickwood et al. 2003
Sister of 226980.1.1
226980.6
United Arab Emirates
2
Pathogenic
Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus
Deeb et al. 2016
Download Table
Contributors
Sayeeda Hana: 15.09.2020
Edit History
Sami Bizzari: 06.02.2023
Sayeeda Hana: 23.09.2021
Sayeeda Hana: 05.10.2020
Sayeeda Hana: 15.09.2020
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.