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_004525.3:c.9358_9359del
Home
NM_004525.3:c.9358_9359del
HGVS Expressions
NG_012634.1:g.181623_181624del
NM_004525.3:c.9358_9359del
NP_004516.2:p.Ser3120fs
Associated Genes
Low Density Lipoprotein Receptor-Related Protein 2
Back to search Result
Genomic Location
chr2:169185989-169185990
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
80338750
Clinvar
21421
Epidemiology in the Arab World
View Map
Qatar
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
222448.1.1
Qatar
2
Pathogenic
Donnai-Barrow Syndrome
Kantarci et al. 2007
Patient 'Pt 1' from kindred 6 in the pub...
222448.1.2
Qatar
2
Pathogenic
Donnai-Barrow Syndrome
Kantarci et al. 2007
Patient 'Pt 2' from kindred 6 in the pub...
Download Table
Contributors
Edit History
Sayeeda Hana: 05.10.2020
Asha Deepthi: 21.07.2020
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.