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_004425.4:c.389C>T
Home
NM_004425.4:c.389C>T
HGVS Expressions
NG_012062.1:g.7869C>T
NM_004425.4:c.389C>T
NP_004416.2:p.Thr130Met
NC_000001.11:g.150510879C>T
Associated Genes
Extracellular Matrix Protein 1
Back to search Result
Clinvar Clinical Significance
Benign
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
3737240
Clinvar
1222321
Epidemiology in the Arab World
View Map
Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
247100.9
Lebanon
2
Likely Pathogenic
Lipoid Proteinosis of Urbach and Wiethe
O'Blenes et al. 2015
Download Table
Contributors
Pratibha Nair: 30.06.2020
Edit History
Pratibha Nair: 10.11.2022
Rahila Mir: 14.02.2022
Pratibha Nair: 30.06.2020
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.