NM_000277.3:c.250G>T

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HGVS Expressions

  • NG_008690.2:g.68574G>T
  • NM_000277.3:c.250G>T
  • NP_000268.1:p.Asp84Tyr
  • NC_000012.12:g.102894837C>A

Associated Genes

Phenylalanine Hydroxylase
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

62514902

Clinvar

102639

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261600.43United Arab Emirates2Likely PathogenicPhenylketonuriaAl-Jasmi at al. 2016 Mutation identified through newborn scre...
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Contributors

  • Asha Deepthi: 08.06.2021

Edit History

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