NM_000277.3:c.1089del

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  2. NM_000277.3:c.1089del

HGVS Expressions

  • NG_008690.2:g.119655del
  • NM_000277.3:c.1089del
  • NP_000268.1:p.Lys363fs

Associated Genes

Phenylalanine Hydroxylase
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Genomic Location

chr12:102843756

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

5030654

Clinvar

102518

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261600.19KuwaitPathogenicPhenylketonuriaSamilchuk, 2005 Kuwaiti patient(s) with PKU. Number of p...
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Contributors

  • Pratibha Nair: 14.06.2020

Edit History

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