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_003124.5:c.207C>G
Home
NM_003124.5:c.207C>G
HGVS Expressions
NG_008234.1:g.5257C>G
NM_003124.5:c.207C>G
NP_003115.1:p.Asp69Glu
NC_000002.12:g.72887639C>G
Associated Genes
Sepiapterin Reductase
Back to search Result
Clinvar Clinical Significance
Uncertain Significance
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
779655618
Clinvar
566802
Epidemiology in the Arab World
View Map
Egypt
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
612716.2.1
Egypt
1
Pathogenic
Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency
Shalash et al. 2017
Authors noted that the "SPR mutation can...
612716.2.2
Egypt
1
Pathogenic
Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency
Shalash et al. 2017
Sister of 612716.2.1 Authors noted tha...
612716.2.3
Egypt
1
Pathogenic
Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency
Shalash et al. 2017
Brother of 612716.2.1 Authors noted th...
612716.2.4
Egypt
1
Pathogenic
Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency
Shalash et al. 2017
Daughter of 612716.2.1 Authors noted t...
612716.2.5
Egypt
1
Pathogenic
Dystonia, Dopa-Responsive, Due to Sepiapterin Reductase Deficiency
Shalash et al. 2017
Son of 612716.2.1 Authors noted that t...
612716.2.6
Egypt
1
Shalash et al. 2017
Mother of 612716.2.1
612716.2.8
Egypt
1
Shalash et al. 2017
Brother of 612716.2.1
612716.2.9
Egypt
1
Shalash et al. 2017
Son of 612716.2.1
Download Table
Contributors
Sayeeda Hana: 03.02.2025
Edit History
Sayeeda Hana: 05.02.2025
Sayeeda Hana: 03.02.2025
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 2025. All rights reserved.