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_000359.3:c.398_407dup
Home
NM_000359.3:c.398_407dup
HGVS Expressions
NG_007150.2:g.6362_6371dup
NM_000359.3:c.398_407dup
NP_000350.1:p.Tyr136Ter
Associated Genes
Transglutaminase 1
Back to search Result
Genomic Location
chr14:24261796-24261805
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Duplication
dbSNP
1057517836
Clinvar
372530
Epidemiology in the Arab World
View Map
Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
242300.2.1
Saudi Arabia
2
Pathogenic
Ichthyosis, Lamellar, 1
Wakil et al. 2016
Index patient
242300.2.2
Saudi Arabia
1
Wakil et al. 2016
Father of 242300.2.1
242300.2.3
Saudi Arabia
1
Wakil et al. 2016
Mother of 242300.2.1
242300.3.1
Saudi Arabia
2
Pathogenic
Ichthyosis, Lamellar, 1
Wakil et al. 2016
Index patient
242300.3.2
Saudi Arabia
2
Pathogenic
Ichthyosis, Lamellar, 1
Wakil et al. 2016
Relative of 242300.3.1
242300.3.3
Saudi Arabia
2
Pathogenic
Ichthyosis, Lamellar, 1
Wakil et al. 2016
Relative of 242300.3.1
242300.3.4
Saudi Arabia
2
Pathogenic
Ichthyosis, Lamellar, 1
Wakil et al. 2016
Relative of 242300.3.1, Sister of 242300...
242300.3.5
Saudi Arabia
1
Wakil et al. 2016
Father of 242300.3.1
242300.3.6
Saudi Arabia
1
Wakil et al. 2016
Mother of 242300.3.1
Download Table
Contributors
Sayeeda Hana: 31.08.2020
Edit History
Sayeeda Hana: 05.10.2020
Sayeeda Hana: 31.08.2020
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.