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_004614.5:c.635T>A
Home
NM_004614.5:c.635T>A
HGVS Expressions
NG_016862.1:g.41618T>A
NM_004614.5:c.635T>A
NP_004605.4:p.Ile212Asn
Associated Genes
Thymidine Kinase, Mitochondrial
Back to search Result
Genomic Location
chr16:66513795
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
137854430
Clinvar
12709
Epidemiology in the Arab World
View Map
Palestine
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
609560.2.1
Palestine
2
Pathogenic
Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type)
Saada et al. 2001
Several siblings died of a degenerative ...
609560.2.2
Palestine
1
Pathogenic
Saada et al. 2001
Mother of 609560.2.1
609560.2.3
Palestine
1
Pathogenic
Saada et al. 2001
Father of 609560.2.1
609560.3
Palestine
2
Pathogenic
Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type)
Saada et al. 2001
Several siblings died of a degenerative ...
609560.4
Palestine
2
Pathogenic
Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type)
Saada et al. 2001
Download Table
Contributors
Pratibha Nair: 04.08.2020
Edit History
Pratibha Nair: 04.08.2020
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.