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_001080467.3:c.1966C>T
Home
NM_001080467.3:c.1966C>T
HGVS Expressions
NG_012925.2:g.263793C>T
NM_001080467.3:c.1966C>T
NP_001073936.1:p.Arg656Cys
NC_000018.10:g.49936289G>A
Associated Genes
Myosin VB
Back to search Result
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
121908105
Clinvar
4251
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
251850.G.1
United Arab Emirates
6
NA
Likely Pathogenic
Diarrhea 2, with Microvillus Atrophy, with or without Cholestasis
Aldrian et al. 2021
Three Emirati patients
Download Table
Contributors
Asha Deepthi: 11.08.2022
Edit History
Asha Deepthi: 11.08.2022
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.