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_001814.4:c.815G>C
Home
NM_001814.4:c.815G>C
HGVS Expressions
NG_007952.1:g.46567G>C
NM_001814.4:c.815G>C
NP_001805.3:p.Arg272Pro
NC_000011.10:g.88296207C>G
Associated Genes
Cathepsin C
Back to search Result
Clinvar Clinical Significance
Likely Pathogenic, Pathogenic
CTGA Clinical Significance
Likely Pathogenic, Pathogenic
Variant Type
Substitution
dbSNP
587777534
Clinvar
548504
Epidemiology in the Arab World
View Map
All Countries
Lebanon
Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
245000.3.2
Saudi Arabia
2
Likely Pathogenic
Papillon-Lefevre Syndrome
Zhang et al. 2001
Proband
245000.3.3
Saudi Arabia
2
Likely Pathogenic
Papillon-Lefevre Syndrome
Zhang et al. 2001
Proband
245000.3.4
Saudi Arabia
2
Likely Pathogenic
Papillon-Lefevre Syndrome
Zhang et al. 2001
Proband
245000.3.5
Saudi Arabia
2
Likely Pathogenic
Papillon-Lefevre Syndrome
Zhang et al. 2001
Proband
245000.6.1
Lebanon
2
Pathogenic
Papillon-Lefevre Syndrome
Kurbat et al. 2009
245000.6.2
Lebanon
2
Pathogenic
Papillon-Lefevre Syndrome
Kurbat et al. 2009
Sibling of 245000.6.1
245000.6.3
Lebanon
2
Pathogenic
Papillon-Lefevre Syndrome
Kurbat et al. 2009
Sibling of 245000.6.1
245000.G.2
Saudi Arabia
60
Likely Pathogenic
Papillon-Lefevre Syndrome
Ullbro et al. 2006
Group of 30 patients
Download Table
Contributors
Sayeeda Hana: 28.01.2020
Edit History
Pratibha Nair: 22.11.2022
Pratibha Nair: 01.04.2020
Sayeeda Hana: 28.01.2020
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.