NM_001374377.1:c.1027G>C

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  2. NM_001374377.1:c.1027G>C

HGVS Expressions

  • NG_012833.1:g.32192G>C
  • NM_001374377.1:c.1027G>C
  • NP_001361306.1:p.Gly343Arg

Associated Genes

Fumarylacetoacetate Hydrolase
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Genomic Location

chr15:80180190

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

970505762

Clinvar

558592

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
276700.G.8Egypt6PathogenicTyrosinemia, Type IImtiaz et al. 2011 3 patients from 2 Egyptian families
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Contributors

  • Sayeeda Hana: 13.08.2020

Edit History

  • Sayeeda Hana: 16.08.2020
  • Sayeeda Hana: 13.08.2020
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© CAGS 2024. All rights reserved.