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NM_000277.3:c.1066-11G>A
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NM_000277.3:c.1066-11G>A
HGVS Expressions
NG_008690.2:g.119621G>A
NM_000277.3:c.1066-11G>A
NP_000268.1:p.?
NC_000012.12:g.102843790C>T
Associated Genes
Phenylalanine Hydroxylase
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic, Pathogenic
Variant Type
Substitution
dbSNP
5030855
Clinvar
607
Epidemiology in the Arab World
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All Countries
Kuwait
Lebanon
Morocco
Palestine
United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
261600.6
Lebanon
1
Pathogenic
Phenylketonuria
Karam et al. 2013
Diagnosed through NBS
261600.9
Lebanon
2
Pathogenic
Phenylketonuria
Karam et al. 2013
261600.10
Lebanon
2
Pathogenic
Phenylketonuria
Karam et al. 2013
Diagnosed through NBS
261600.11
Lebanon
1
Pathogenic
Phenylketonuria
Karam et al. 2013
261600.15
Lebanon
1
Pathogenic
Phenylketonuria
Karam et al. 2013
Diagnosed through NBS
261600.16
Lebanon
1
Pathogenic
Phenylketonuria
Karam et al. 2013
Diagnosed through NBS
261600.18
Kuwait
Pathogenic
Phenylketonuria
Samilchuk, 2005
Kuwaiti patient(s) with PKU. Number of p...
261600.33
Palestine
1
Likely Pathogenic
Phenylketonuria
Ben-Rebeh et al. 2012
261600.35
Morocco
1
Likely Pathogenic
Phenylketonuria
Ben-Rebeh et al. 2012
261600.42
United Arab Emirates
2
Pathogenic
Phenylketonuria
Al-Jasmi at al. 2016
261600.45
United Arab Emirates
2
Pathogenic
Phenylketonuria
Bertoli-Avella et al. 2021
261600.G.1
Kuwait
14
Pathogenic
Phenylketonuria
Samilchuk et al. 1999
Seven patients from four families
261600.G.7
United Arab Emirates
Pathogenic
Phenylketonuria
Al-Shamsi et al. 2014;
Ali et al. 2011
Emirati patient(s) with PKU. Number of p...
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Contributors
Pratibha Nair: 04.06.2020
Edit History
Pratibha Nair: 29.11.2022
Pratibha Nair: 23.08.2022
Pratibha Nair: 10.05.2022
Asha Deepthi: 08.06.2021
Sayeeda Hana: 25.05.2021
Sayeeda Hana: 24.05.2021
Pratibha Nair: 14.06.2020
Pratibha Nair: 04.06.2020
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