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NM_000277.3:c.165del
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NM_000277.3:c.165del
HGVS Expressions
NG_008690.2:g.50617del
NM_000277.3:c.165del
NP_000268.1:p.Phe55LeufsTer6
NC_000012.12:g.102912796del
Associated Genes
Phenylalanine Hydroxylase
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Pathogenic
Variant Type
Deletion
dbSNP
199475566
Clinvar
611
Epidemiology in the Arab World
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Syria
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
261600.41
Syria
2
Pathogenic
Phenylketonuria
Al-Jasmi at al. 2016;
Ali et al. 2011
UAE resident of Syrian origin
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Contributors
Asha Deepthi: 08.06.2021
Edit History
Asha Deepthi: 08.06.2021
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