NM_000277.3:c.968_970del

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HGVS Expressions

  • NG_008690.2:g.116514_116516del
  • NM_000277.3:c.968_970del
  • NP_000268.1:p.Thr323del
  • NC_000012.12:g.102846895_102846897del

Associated Genes

Phenylalanine Hydroxylase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

199475618

Clinvar

102913

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261600.37Egypt2PathogenicPhenylketonuriaAl-Jasmi at al. 2016 UAE resident of Egyptian origin
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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.