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_058172.6:c.347G>T
Home
NM_058172.6:c.347G>T
HGVS Expressions
NG_015987.1:g.22361G>T
NM_058172.6:c.347G>T
NP_477520.2:p.Gly116Val
NC_000004.12:g.80055963C>A
Associated Genes
Anthrax Toxin Receptor 2
Back to search Result
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
1733977673
Epidemiology in the Arab World
View Map
Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
228600.7.1
Lebanon
2
Pathogenic
Hyaline Fibromatosis Syndrome
Haidar et al, 2017
Proband
228600.7.2
Lebanon
2
Pathogenic
Hyaline Fibromatosis Syndrome
Haidar et al, 2017
Brother of 228600.7.1
228600.7.3
Lebanon
2
Pathogenic
Hyaline Fibromatosis Syndrome
Haidar et al, 2017
Brother of 228600.7.1
228600.7.4
Lebanon
2
Pathogenic
Hyaline Fibromatosis Syndrome
Haidar et al, 2017
Relative of 228600.7.1
228600.7.5
Lebanon
2
Pathogenic
Hyaline Fibromatosis Syndrome
Haidar et al, 2017
Relative of 228600.7.1
228600.7.6
Lebanon
1
Pathogenic
Haidar et al, 2017
Unaffected father of 228600.7.1
228600.7.7
Lebanon
1
Pathogenic
Haidar et al, 2017
Unaffected mother of 228600.7.1
Download Table
Contributors
Sayeeda Hana: 14.10.2019
Edit History
Rahila Mir: 14.02.2022
Asha Deepthi: 26.09.2021
Pratibha Nair: 09.06.2021
Sayeeda Hana: 14.10.2019
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.