NM_001374377.1:c.709C>T

  1. Home
  2. NM_001374377.1:c.709C>T

HGVS Expressions

  • NG_012833.1:g.25018C>T
  • NM_001374377.1:c.709C>T
  • NP_001361306.1:p.Arg237Ter

Associated Genes

Fumarylacetoacetate Hydrolase
Back to search Result
Genomic Location

chr15:80173016

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

769550316

Clinvar

437463

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
276700.G.5Saudi Arabia20PathogenicTyrosinemia, Type IImtiaz et al. 2011 10 patients from 7 Saudi Arabian familie...
Download Table

Contributors

  • Sayeeda Hana: 12.08.2020

Edit History

  • Sayeeda Hana: 16.08.2020
  • Sayeeda Hana: 12.08.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.