NM_000277.3:c.168+5G>A

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HGVS Expressions

  • NG_008690.2:g.50625G>A
  • NM_000277.3:c.168+5G>A
  • NC_000012.12:g.102912786C>T

Associated Genes

Phenylalanine Hydroxylase
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

62507288

Clinvar

102605

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261600.11Lebanon1PathogenicPhenylketonuriaKaram et al. 2013
261600.13.1Lebanon1PathogenicPhenylketonuriaKaram et al. 2013
261600.13.2Lebanon1PathogenicPhenylketonuriaKaram et al. 2013 Sibling of 261600.13.1
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Contributors

  • Pratibha Nair: 14.06.2020

Edit History

  • Pratibha Nair: 06.02.2023
  • Pratibha Nair: 23.08.2022
  • Pratibha Nair: 14.06.2020
  • Pratibha Nair: 04.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.