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_130468.4:c.54_78del
Home
NM_130468.4:c.54_78del
HGVS Expressions
NG_017074.1:g.5307_5331del
NM_130468.4:c.54_78del
NP_569735.1:p.Gly19TrpfsTer19
NC_000015.10:g.40471267_40471291del
Associated Genes
Carbohydrate Sulfotransferase 14
Back to search Result
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
Epidemiology in the Arab World
View Map
Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
601776.1.1
Saudi Arabia
2
NA
Pathogenic
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Maddirevula et al. 2018
601776.1.2
Saudi Arabia
2
NA
Pathogenic
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Maddirevula et al. 2018
Relative of 601776.1.1
Download Table
Contributors
Asha Deepthi: 01.11.2021
Edit History
Rahila Mir: 14.02.2022
Asha Deepthi: 01.11.2021
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.