NM_000277.3:c.168_168+1delinsAA

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  2. NM_000277.3:c.168_168+1delinsAA

HGVS Expressions

  • NG_008690.2:g.50620_50621delinsAA
  • NM_000277.3:c.168_168+1delinsAA

Associated Genes

Phenylalanine Hydroxylase
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Genomic Location

chr12:102912790-102912791

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Indel

dbSNP

786204457

Clinvar

188771

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261600.25KuwaitPathogenicPhenylketonuriaSamilchuk, 2005 Kuwaiti patient(s) with PKU. Number of p...
261600.G.2Palestine10PathogenicPhenylketonuriaKleiman et al. 1992 5 Palestinian Arab patients with PKU.
261600.G.3Palestine3PathogenicPhenylketonuriaKleiman et al. 1992 3 Palestinian Arab patients with PKU.
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Contributors

  • Pratibha Nair: 14.06.2020

Edit History

  • Sayeeda Hana: 05.10.2020
  • Pratibha Nair: 14.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.