NM_000277.3:c.721C>T

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  2. NM_000277.3:c.721C>T

HGVS Expressions

  • NG_008690.2:g.110475C>T
  • NM_000277.3:c.721C>T
  • NP_000268.1:p.Arg241Cys

Associated Genes

Phenylalanine Hydroxylase
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Genomic Location

NG_008690.2:g.110475C>T

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

76687508

Clinvar

102803

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
261600.30Egypt1Likely PathogenicPhenylketonuriaBen-Rebeh et al. 2012
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Contributors

  • Pratibha Nair: 04.06.2020

Edit History

  • Sayeeda Hana: 24.05.2021
  • Pratibha Nair: 04.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.