NM_000277.3:c.581T>G

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  2. NM_000277.3:c.581T>G

HGVS Expressions

  • NG_008690.2:g.108150T>G
  • NM_000277.3:c.581T>G
  • NP_000268.1:p.Leu194Arg
  • NC_000012.12:g.102855261A>C

Associated Genes

Phenylalanine Hydroxylase
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

5030844

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261600.28Egypt1Likely PathogenicPhenylketonuriaBen-Rebeh et al. 2012
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Contributors

  • Sayeeda Hana: 24.05.2021

Edit History

  • Rahila Mir: 10.02.2022
  • Sayeeda Hana: 24.05.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.