NM_000277.3:c.970-2A>G

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HGVS Expressions

  • NG_008690.2:g.118978A>G
  • NM_000277.3:c.970-2A>G
  • NC_000012.12:g.102844433T>C

Associated Genes

Phenylalanine Hydroxylase
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

62517199

Clinvar

932272

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261600.26Palestine2Likely PathogenicPhenylketonuriaBen-Rebeh et al. 2012
261600.G.6United Arab EmiratesPathogenicPhenylketonuriaAl-Shamsi et al. 2014 Emirati patient(s) with PKU. Number of p...
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Contributors

  • Pratibha Nair: 14.06.2020

Edit History

  • Pratibha Nair: 09.11.2022
  • Pratibha Nair: 23.08.2022
  • Rahila Mir: 10.02.2022
  • Sayeeda Hana: 24.05.2021
  • Pratibha Nair: 14.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.