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_000082.3:c.966C>A
Home
NM_000082.3:c.966C>A
HGVS Expressions
NG_009289.1:g.59115C>A
NM_000082.3:c.966C>A
NP_000073.1:p.Tyr322Ter
NC_000005.10:g.60890964G>T
Associated Genes
Excision-Repair Cross-Complementing, Group 8
Back to search Result
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
121434323
Clinvar
1715
Epidemiology in the Arab World
View Map
All Countries
Lebanon
Palestine
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
216400.2
Lebanon
2
Pathogenic
Cockayne Syndrome, Type A
Laugel et al, 2010
216400.3
Lebanon
2
Pathogenic
Cockayne Syndrome, Type A
Laugel et al, 2010
216400.7
Lebanon
2
Pathogenic
Cockayne Syndrome, Type A
Chebly et al, 2018
The patient had two other affected sibli...
216400.G.1
Palestine
19
0.068
Pathogenic
Khayat et al. 2010
19 of 280 Christian Arabs
Download Table
Contributors
Pratibha Nair: 15.01.2019
Edit History
Pratibha Nair: 08.11.2022
Sayeeda Hana: 30.10.2019
Pratibha Nair: 15.01.2019
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.