NM_000277.3:c.969+5G>A

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HGVS Expressions

  • NG_008690.2:g.116521G>A
  • NM_000277.3:c.969+5G>A

Associated Genes

Phenylalanine Hydroxylase
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Genomic Location

chr12:102846890

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

62508637

Clinvar

102915

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261600.14Lebanon1PathogenicPhenylketonuriaKaram et al. 2013
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Contributors

  • Pratibha Nair: 04.06.2020

Edit History

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