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_032856.3:c.68T>A
Home
NM_032856.3:c.68T>A
HGVS Expressions
NG_042034.1:g.5671T>A
NM_032856.3:c.68T>A
NP_116245.2:p.Leu23Gln
Associated Genes
WD Repeat-Containing Protein 73
Back to search Result
Genomic Location
chr15: 84653673
Clinvar Clinical Significance
Likely Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
797044993
Clinvar
208468
Epidemiology in the Arab World
View Map
Somalia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
251300.2.1
Somalia
2
Likely Pathogenic
Galloway-Mowat Syndrome 1
Vodopiutz et al, 2015
251300.2.2
Somalia
1
Likely Pathogenic
Vodopiutz et al, 2015
Father of 251300.2.1
251300.2.3
Somalia
1
Likely Pathogenic
Vodopiutz et al, 2015
Mother of 251300.2.1
Download Table
Contributors
Sami Bizzari: 28.07.2019
Edit History
Sami Bizzari: 07.05.2020
Sami Bizzari: 28.07.2019
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.