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_000257.4:c.1357C>T
Home
NM_000257.4:c.1357C>T
HGVS Expressions
NG_007884.1:g.11657C>T
NM_000257.4:c.1357C>T
NP_000248.2:p.Arg453Cys
NC_000014.9:g.23429005G>A
Associated Genes
Myosin, Heavy Chain 7, Cardiac Muscle, Beta
Back to search Result
Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Likely Pathogenic, Pathogenic
Variant Type
Substitution
dbSNP
121913625
Clinvar
14089
Epidemiology in the Arab World
View Map
Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
192600.2.1
Lebanon
Pathogenic
Cardiomyopathy, Familial Hypertrophic, 1
Refaat et al. 2016
Proband
192600.2.2
Lebanon
Pathogenic
Cardiomyopathy, Familial Hypertrophic, 1
Refaat et al. 2016
Mother of 192600.2.1
192600.2.3
Lebanon
Likely Pathogenic
Cardiomyopathy, Familial Hypertrophic, 1
Refaat et al. 2016
Son of 192600.2.1
192600.2.4
Lebanon
Likely Pathogenic
Cardiomyopathy, Familial Hypertrophic, 1
Refaat et al. 2016
Daughter of 192600.2.1
Download Table
Contributors
Asha Deepthi: 24.02.2021
Edit History
Asha Deepthi: 24.02.2021
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.