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NM_000277.3:c.164_165del
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NM_000277.3:c.164_165del
HGVS Expressions
NG_008690.2:g.50617del
NP_000268.1:p.Phe55fs
Associated Genes
Phenylalanine Hydroxylase
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Genomic Location
chr12:102912794-102912796
Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
199475566
Clinvar
611
Epidemiology in the Arab World
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Lebanon
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
261600.1
Lebanon
2
Pathogenic
Phenylketonuria
Karam et al. 2013
Diagnosed through NBS. Has an affected b...
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Contributors
Pratibha Nair: 04.06.2020
Edit History
Pratibha Nair: 04.06.2020
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Algeria
Bahrain
Comoros
Country not specified
Djibouti
Egypt
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Iraq
Jordan
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Libya
Mauritania
Morocco
Oman
Palestine
Qatar
Saudi Arabia
Somalia
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United Arab Emirates
Yemen
Arab Countries with reported incidence
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