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_014714.4:c.1990G>A
Home
NM_014714.4:c.1990G>A
HGVS Expressions
NG_032783.1:g.53035G>A
NM_014714.4:c.1990G>A
NP_055529.2:p.Glu664Lys
Associated Genes
Intraflagellar Transport 140, Chlamydomonas, Homolog of
Back to search Result
Genomic Location
chr16:1564074
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic, Pathogenic
Variant Type
Substitution
dbSNP
387907192
Clinvar
31679
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
266920.1
Saudi Arabia
1
NA
Likely Pathogenic
Short-Rib Thoracic Dysplasia 9 with or without Polydactyly
Maddirevula et al. 2018
266920.2.1
Saudi Arabia
2
NA
Likely Pathogenic
Short-Rib Thoracic Dysplasia 9 with or without Polydactyly
Maddirevula et al. 2018
266920.2.2
Saudi Arabia
2
NA
Likely Pathogenic
Short-Rib Thoracic Dysplasia 9 with or without Polydactyly
Maddirevula et al. 2018
Relative of 266920.2.1
617781.1
Saudi Arabia
2
Pathogenic
Retinitis Pigmentosa 80
Bifari et al. 2016
617781.2
Saudi Arabia
2
Pathogenic
Retinitis Pigmentosa 80
Bifari et al. 2016
617781.3
Saudi Arabia
2
Pathogenic
Retinitis Pigmentosa 80
Bifari et al. 2016
617781.4
Saudi Arabia
2
Pathogenic
Retinitis Pigmentosa 80
Bifari et al. 2016
617781.5
Saudi Arabia
2
Pathogenic
Retinitis Pigmentosa 80
Bifari et al. 2016
617781.6
Saudi Arabia
2
Pathogenic
Retinitis Pigmentosa 80
Bifari et al. 2016
617781.7
Saudi Arabia
2
Pathogenic
Retinitis Pigmentosa 80
Bifari et al. 2016;
Khan et al, 2014
617781.8
Saudi Arabia
2
Pathogenic
Retinitis Pigmentosa 80
Bifari et al. 2016;
Khan et al, 2014
617781.9
Saudi Arabia
2
Pathogenic
Retinitis Pigmentosa 80
Bifari et al. 2016
The patient had two similarly affected f...
617781.10.1
Saudi Arabia
2
Pathogenic
Retinitis Pigmentosa 80
Bifari et al. 2016
Relative of 617781.10.2
617781.10.2
Saudi Arabia
2
Pathogenic
Retinitis Pigmentosa 80
Bifari et al. 2016
Relative of 617781.10.1
266920.G.1
Saudi Arabia
6
Pathogenic
Short-Rib Thoracic Dysplasia 9 with or without Polydactyly
Patel et al, 2018
3 family members
266920.G.2
Saudi Arabia
10
Pathogenic
Short-Rib Thoracic Dysplasia 9 with or without Polydactyly
Patel et al, 2018
5 family members
Download Table
Contributors
Sayeeda Hana: 11.06.2020
Edit History
Asha Deepthi: 27.12.2021
Sayeeda Hana: 21.07.2020
Sayeeda Hana: 17.06.2020
Sayeeda Hana: 11.06.2020
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.