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_020964.3:c.4751T>A
Home
NM_020964.3:c.4751T>A
HGVS Expressions
NG_042838.1:g.72878T>A
NM_020964.3:c.4751T>A
NP_066015.2:p.Leu1584Ter
Associated Genes
Ectopic P-Granules Autophagy Protein 5, C. Elegans, Homolog of
Back to search Result
Genomic Location
chr18:45899462
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
1568133760
Clinvar
626245
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
242840.1
Saudi Arabia
2
Pathogenic
Vici Syndrome
Byrne et al. 2016
Patient had 2 similarly affected sibling...
Download Table
Contributors
Sayeeda Hana: 01.09.2020
Edit History
Sayeeda Hana: 01.09.2020
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.