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_020366.3:c.1107del
Home
NM_020366.3:c.1107del
HGVS Expressions
NG_008933.1:g.29486del
NM_020366.3:c.1107del
NP_065099.3:p.Glu370fs
Associated Genes
Retinitis Pigmentosa GTPase Regulator-Interacting Protein
Back to search Result
Genomic Location
chr14:21312462
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
61751266
Clinvar
99809
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
613826.3.1
Saudi Arabia
2
Pathogenic
Leber Congenital Amaurosis 6
Khan et al. 2013;
Hameed et al, 2003
613826.3.2
Saudi Arabia
2
Pathogenic
Leber Congenital Amaurosis 6
Khan et al. 2013;
Hameed et al, 2003
Brother of 613826.3.1
613826.5
Saudi Arabia
2
Pathogenic
Leber Congenital Amaurosis 6
Khan et al. 2013;
Hameed et al, 2003
613826.7
Saudi Arabia
2
Pathogenic
Leber Congenital Amaurosis 6
Khan et al. 2013;
Hameed et al, 2003
613826.8
Saudi Arabia
2
Pathogenic
Leber Congenital Amaurosis 6
Khan et al. 2013;
Hameed et al, 2003
608194.G.1
Saudi Arabia
8
Pathogenic
Cone-Rod Dystrophy 13
Patel et al, 2018
4 members of a family
613826.G.1
Saudi Arabia
4
Pathogenic
Leber Congenital Amaurosis 6
Patel et al, 2018
2 members of a family
Download Table
Contributors
Sayeeda Hana: 18.06.2020
Edit History
Sayeeda Hana: 05.10.2020
Sayeeda Hana: 25.06.2020
Sayeeda Hana: 19.06.2020
Sayeeda Hana: 18.06.2020
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.