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.70+1G>C
Home
NM_004425.4:c.70+1G>C
HGVS Expressions
NG_012062.1:g.5270G>C
NM_004425.4:c.70+1G>C
Associated Genes
Extracellular Matrix Protein 1
Back to search Result
Genomic Location
chr1:150508280
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
1429863804
Epidemiology in the Arab World
View Map
Palestine
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
247100.4.1
Palestine
2
Pathogenic
Lipoid Proteinosis of Urbach and Wiethe
Horev et al. 2005
Proband
247100.4.2
Palestine
2
Pathogenic
Lipoid Proteinosis of Urbach and Wiethe
Horev et al. 2005
Brother of 247100.4.1
247100.4.3
Palestine
2
Pathogenic
Lipoid Proteinosis of Urbach and Wiethe
Horev et al. 2005
Sister of 247100.4.1
247100.4.4
Palestine
1
Pathogenic
Horev et al. 2005
Unaffected brother of 247100.4.1
247100.4.5
Palestine
1
Pathogenic
Horev et al. 2005
Unaffected sister of 247100.4.1
247100.4.6
Palestine
1
Pathogenic
Horev et al. 2005
Unaffected father of 247100.4.1
247100.4.7
Palestine
1
Pathogenic
Horev et al. 2005
Unaffected mother of 247100.4.1
Download Table
Contributors
Sayeeda Hana: 07.11.2019
Edit History
Rahila Mir: 17.02.2022
Sayeeda Hana: 07.11.2019
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.