NM_000277.3:c.842+1G>T

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HGVS Expressions

  • NG_008690.2:g.110597G>T
  • NM_000277.3:c.842+1G>T

Associated Genes

Phenylalanine Hydroxylase
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Genomic Location

chr12:102852814

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

5030852

Clinvar

102869

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261600.12Lebanon2PathogenicPhenylketonuriaKaram et al. 2013 Has an affected cousin
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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.