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NM_000277.3:c.838G>C
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NM_000277.3:c.838G>C
HGVS Expressions
NG_008690.2:g.110592G>C
NM_000277.3:c.838G>C
NP_000268.1:p.Glu280Gln
Associated Genes
Phenylalanine Hydroxylase
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Genomic Location
chr12:102852819
CTGA Clinical Significance
Likely Pathogenic, Pathogenic
Variant Type
Substitution
dbSNP
62508698
Clinvar
102864
Epidemiology in the Arab World
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All Countries
Algeria
Kuwait
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
261600.17
Algeria
2
Likely Pathogenic
Phenylketonuria
Lyonnet et al. 1989
261600.23
Kuwait
Pathogenic
Phenylketonuria
Samilchuk, 2005
Kuwaiti patient(s) with PKU. Number of p...
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Contributors
Pratibha Nair: 14.06.2020
Edit History
Pratibha Nair: 14.06.2020
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Algeria
Bahrain
Comoros
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Qatar
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Arab Countries with reported incidence
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Non-Arab Countries
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