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NM_000151.3:c.247C>T
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NM_000151.3:c.247C>T
HGVS Expressions
NG_011808.1:g.8150C>T
NM_000151.3:c.247C>T
NP_000142.2:p.Arg83Cys
Associated Genes
Glucose-6-Phosphatase, Catalytic
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Genomic Location
chr17:42903947
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Substitution
dbSNP
1801175
Clinvar
11998
Epidemiology in the Arab World
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All Countries
Palestine
Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
232200.1
Saudi Arabia
2
Pathogenic
Glycogen Storage Disease I
Monies et al. 2017
232200.2
Palestine
2
Pathogenic
Glycogen Storage Disease I
Parvari et al. 1997
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Contributors
Pratibha Nair: 06.05.2019
Edit History
Pratibha Nair: 06.05.2019
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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
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