NM_000277.3:c.226G>A

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HGVS Expressions

  • NG_008690.2:g.68550G>A
  • NM_000277.3:c.226G>A
  • NP_000268.1:p.Glu76Lys
  • NC_000012.12:g.102894861C>T

Associated Genes

Phenylalanine Hydroxylase
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261600.39Sudan2Likely PathogenicPhenylketonuriaAl-Jasmi at al. 2016 UAE resident of Sudanese origin
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Contributors

  • Asha Deepthi: 08.06.2021

Edit History

  • Rahila Mir: 10.02.2022
  • Asha Deepthi: 08.06.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.