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_000322.4:c.659G>A
Home
NM_000322.4:c.659G>A
HGVS Expressions
NG_009176.1:g.23087G>A
NM_000322.4:c.659G>A
NP_000313.2:p.Arg220Gln
NC_000006.12:g.42704534C>T
Associated Genes
Peripherin 2
Back to search Result
Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
61755810
Clinvar
98699
Epidemiology in the Arab World
View Map
United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
608133.1.1
United Arab Emirates
2
Likely Pathogenic
Retinitis Pigmentosa 7
Khan et al. 2019
608133.2
United Arab Emirates
1
Likely Pathogenic
Retinitis Pigmentosa 7
Khan et al. 2019
Father of 608133.2. Refused ERG
608133.3
United Arab Emirates
1
Likely Pathogenic
Retinitis Pigmentosa 7
Khan et al. 2019
Mother of 608133.2. Refused ERG
Download Table
Contributors
Rahila Mir: 25.08.2021
Edit History
Pratibha Nair: 12.01.2023
Pratibha Nair: 25.08.2021
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.