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NM_001386393.1:c.1253C>T
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NM_001386393.1:c.1253C>T
HGVS Expressions
NG_008131.3:g.34879C>T
NM_001386393.1:c.1253C>T
NP_001373322.1:p.Thr418Met
NC_000020.11:g.3918717C>T
Associated Genes
Pantothenate Kinase 2
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
137852967
Clinvar
4556
Epidemiology in the Arab World
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Egypt
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Subject ID
Country of Origin
Allele Count
CTGA Clinical Significance
Condition(s)
Reference
Remarks
234200.2.1
Egypt
2
Pathogenic
Neurodegeneration with Brain Iron Accumulation 1
Shalash et al. 2021
Patient's brother with a history of forc...
234200.2.2
Egypt
2
Pathogenic
Neurodegeneration with Brain Iron Accumulation 1
Shalash et al. 2021
Sister of 234200.2.1
234200.2.3
Egypt
2
Pathogenic
Neurodegeneration with Brain Iron Accumulation 1
Shalash et al. 2021
Brother of 234200.2.1
234200.2.4
Egypt
1
Shalash et al. 2021
Father of 234200.2.1.
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Contributors
Sayeeda Hana: 29.01.2025
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Sayeeda Hana: 29.01.2025
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العربية
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العربية
Home
About Us
CTGA Database
CTGA Overview
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Genetics Made Easy
Genetic Disorders in the Arab World
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Contact Us