NM_000277.3:c.1066-11G>A

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  2. 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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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261600.6Lebanon1PathogenicPhenylketonuriaKaram et al. 2013 Diagnosed through NBS
261600.9Lebanon2PathogenicPhenylketonuriaKaram et al. 2013
261600.10Lebanon2PathogenicPhenylketonuriaKaram et al. 2013 Diagnosed through NBS
261600.11Lebanon1PathogenicPhenylketonuriaKaram et al. 2013
261600.15Lebanon1PathogenicPhenylketonuriaKaram et al. 2013 Diagnosed through NBS
261600.16Lebanon1PathogenicPhenylketonuriaKaram et al. 2013 Diagnosed through NBS
261600.18KuwaitPathogenicPhenylketonuriaSamilchuk, 2005 Kuwaiti patient(s) with PKU. Number of p...
261600.33Palestine1Likely PathogenicPhenylketonuriaBen-Rebeh et al. 2012
261600.35Morocco1Likely PathogenicPhenylketonuriaBen-Rebeh et al. 2012
261600.42United Arab Emirates2PathogenicPhenylketonuriaAl-Jasmi at al. 2016
261600.45United Arab Emirates2PathogenicPhenylketonuriaBertoli-Avella et al. 2021
261600.G.1Kuwait14PathogenicPhenylketonuriaSamilchuk et al. 1999 Seven patients from four families
261600.G.7United Arab EmiratesPathogenicPhenylketonuriaAl-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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© CAGS 2024. All rights reserved.