NM_000277.3:c.842C>T

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  2. NM_000277.3:c.842C>T

HGVS Expressions

  • NG_008690.2:g.110596C>T
  • NM_000277.3:c.842C>T
  • NP_000268.1:p.Pro281Leu

Associated Genes

Phenylalanine Hydroxylase
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Genomic Location

chr12:102852815

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

5030851

Clinvar

589

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261600.24KuwaitPathogenicPhenylketonuriaSamilchuk, 2005 Kuwaiti patient(s) with PKU. Number of p...
261600.31Egypt1Likely PathogenicPhenylketonuriaBen-Rebeh et al. 2012
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Contributors

  • Pratibha Nair: 14.06.2020

Edit History

  • Sayeeda Hana: 24.05.2021
  • Pratibha Nair: 14.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.