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_001244189.2:c.230C>G
Home
NM_001244189.2:c.230C>G
HGVS Expressions
NG_051335.2:g.6074C>G
NM_001244189.2:c.230C>G
NP_001231118.1:p.Ser77Ter
Associated Genes
KIAA0586 Gene
Back to search Result
Genomic Location
chr14:58428458
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
797045119
Clinvar
208812
Epidemiology in the Arab World
View Map
Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
616546.1.1
Lebanon
2
Pathogenic
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Alby et al. 2015
15-week gestational age fetus
616546.1.2
Lebanon
2
Pathogenic
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Alby et al. 2015
15-week gestational age fetus; sibling o...
616546.1.3
Lebanon
1
Pathogenic
Alby et al. 2015
Mother of 616546.1.1
616546.1.4
Lebanon
1
Pathogenic
Alby et al. 2015
Father of 616546.1.1
Download Table
Contributors
Pratibha Nair: 21.06.2020
Edit History
Pratibha Nair: 21.06.2020
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.