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_001040436.3:c.156C>G
Home
NM_001040436.3:c.156C>G
HGVS Expressions
NG_028122.1:g.5235C>G
NM_001040436.3:c.156C>G
NP_001035526.1:p.Phe52Leu
NC_000012.12:g.32755719G>C
Associated Genes
Tyrosyl-tRNA Synthetase 2
Back to search Result
Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
267607180
Clinvar
1056
Epidemiology in the Arab World
View Map
Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
613561.1.1
Lebanon
2
Pathogenic
Myopathy, Lactoc Acidosis, and Sideroblastic Anemia 2
Riley et al. 2010
613561.1.2
Lebanon
2
Pathogenic
Myopathy, Lactoc Acidosis, and Sideroblastic Anemia 2
Riley et al. 2010
Sibling of 613561.1.1
613561.1.3
Lebanon
1
Pathogenic
Riley et al. 2010
Mother of 613561.1.1
613561.1.4
Lebanon
1
Pathogenic
Riley et al. 2010
Father of 613561.1.1
613561.4.1
Lebanon
2
Pathogenic
Myopathy, Lactoc Acidosis, and Sideroblastic Anemia 2
Riley et al. 2013
Two subsequent pregnancies of the mother...
613561.4.2
Lebanon
1
Pathogenic
Riley et al. 2013
Mother of 613561.4.1
613561.4.3
Lebanon
1
Pathogenic
Riley et al. 2013
Father of 613561.4.1
613561.5
Lebanon
2
Pathogenic
Myopathy, Lactoc Acidosis, and Sideroblastic Anemia 2
Riley et al. 2013
Possibly affected deceased sister
613561.6
Lebanon
2
Pathogenic
Myopathy, Lactoc Acidosis, and Sideroblastic Anemia 2
Shahni et al. 2013
613561.7
Lebanon
2
Pathogenic
Myopathy, Lactoc Acidosis, and Sideroblastic Anemia 2
Riley et al. 2018
613561.8.1
Lebanon
2
Pathogenic
Myopathy, Lactoc Acidosis, and Sideroblastic Anemia 2
Riley et al. 2018
613561.8.2
Lebanon
2
Pathogenic
Myopathy, Lactoc Acidosis, and Sideroblastic Anemia 2
Riley et al. 2018
613561.9
Lebanon
2
Pathogenic
Myopathy, Lactoc Acidosis, and Sideroblastic Anemia 2
Riley et al. 2018
Download Table
Contributors
Pratibha Nair: 30.03.2020
Edit History
Pratibha Nair: 22.11.2022
Pratibha Nair: 28.09.2020
Pratibha Nair: 30.03.2020
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.