NM_000137.4:c.1A>G

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HGVS Expressions

  • NG_012833.1:g.5057A>G
  • NM_000137.4:c.1A>G
  • NP_000128.1:p.Met1Val
  • NC_000015.10:g.80153055A>G

Associated Genes

Fumarylacetoacetate Hydrolase
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1057517972

Clinvar

372766

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
276700.1United Arab Emirates2PathogenicTyrosinemia, Type IAl-Shamsi et al. 2014
276700.3.1Saudi Arabia2PathogenicTyrosinemia, Type IMohamed et al. 2013
276700.3.2Saudi Arabia2PathogenicTyrosinemia, Type IMohamed et al. 2013 Brother of 276700.3.1
276700.3.3Saudi ArabiaPathogenicMohamed et al. 2013 Father of 276700.3.1
276700.3.4Saudi ArabiaPathogenicMohamed et al. 2013 Mother of 276700.3.1
276700.G.1Saudi Arabia10PathogenicTyrosinemia, Type IImtiaz et al. 2011 5 patients from 4 families
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Contributors

  • Sayeeda Hana: 11.08.2020

Edit History

  • Sayeeda Hana: 27.11.2022
  • Pratibha Nair: 23.08.2022
  • Sayeeda Hana: 16.08.2020
  • Sayeeda Hana: 12.08.2020
  • Sayeeda Hana: 11.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.