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_147127.5:c.2047-1G>T
Home
NM_147127.5:c.2047-1G>T
HGVS Expressions
NG_015821.1:g.91557G>T
NM_147127.5:c.2047-1G>T
NP_667338.3:p.?
NC_000004.12:g.5622992C>A
Associated Genes
EvC Ciliary Complex Subunit 2
Back to search Result
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
1471439757
Epidemiology in the Arab World
View Map
All Countries
United Arab Emirates
Yemen
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
225500.4.1
United Arab Emirates; Yem...
2
Likely Pathogenic
Ellis-van Creveld Syndrome
Ali et al. 2010
Patient is from an Emirati family of Yem...
225500.4.2
United Arab Emirates
1
Ali et al. 2010
Father of 225500.4.1
225500.4.3
United Arab Emirates
1
Ali et al. 2010
Mother of 225500.4.1
Download Table
Contributors
Edit History
Pratibha Nair: 02.01.2023
Sami Bizzari: 26.12.2022
Pratibha Nair: 28.11.2022
Pratibha Nair: 23.08.2022
Asha Deepthi: 19.08.2020
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.