NM_000277.3:c.842+1G>A

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HGVS Expressions

  • NG_008690.2:g.110597G>A
  • NM_000277.3:c.842+1G>A
  • NP_000268.1:p.?
  • NC_000012.12:g.102852814C>T

Associated Genes

Phenylalanine Hydroxylase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

5030852

Clinvar

599

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261600.27United Arab Emirates2Likely PathogenicPhenylketonuriaBen-Rebeh et al. 2012
261600.40Syria2Likely PathogenicPhenylketonuriaAl-Jasmi at al. 2016 UAE resident of Syrian origin
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Contributors

  • Sayeeda Hana: 24.05.2021

Edit History

  • Pratibha Nair: 12.01.2023
  • Sayeeda Hana: 07.12.2022
  • Asha Deepthi: 08.06.2021
  • Sayeeda Hana: 24.05.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.