NM_000277.3:c.164_165del

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  2. NM_000277.3:c.164_165del

HGVS Expressions

  • NG_008690.2:g.50617del
  • NP_000268.1:p.Phe55fs

Associated Genes

Phenylalanine Hydroxylase
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Genomic Location

chr12:102912794-102912796

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

199475566

Clinvar

611

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261600.1Lebanon2PathogenicPhenylketonuriaKaram et al. 2013 Diagnosed through NBS. Has an affected b...
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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.