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NM_006623.4:c.418G>A
Home
NM_006623.4:c.418G>A
HGVS Expressions
NG_009188.1:g.20215G>A
NM_006623.4:c.418G>A
NP_006614.2:p.Gly140Arg
Associated Genes
Phosphoglycerate Dehydrogenase
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Genomic Location
chr1:119727010
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
587777770
Clinvar
139534
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
256520.1
Saudi Arabia
2
Pathogenic
Neu-Laxova Syndrome 1
El-Hattab et al. 2016
256520.3.1
Saudi Arabia
2
Pathogenic
Neu-Laxova Syndrome 1
Shaheen et al, 2014
Index patient
256520.3.2
Saudi Arabia
2
Pathogenic
Neu-Laxova Syndrome 1
Shaheen et al, 2014
Sister of 256520.3.2
256520.4
Saudi Arabia
2
Pathogenic
Neu-Laxova Syndrome 1
Shaheen et al, 2014
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Contributors
Sayeeda Hana: 04.08.2020
Edit History
Sayeeda Hana: 05.08.2020
Sayeeda Hana: 04.08.2020
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Algeria
Bahrain
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Morocco
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Palestine
Qatar
Saudi Arabia
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Arab Countries with reported incidence
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