NM_001374377.1:c.364+1G>A

  1. Home
  2. NM_001374377.1:c.364+1G>A

HGVS Expressions

  • NG_012833.1:g.12462G>A
  • NM_001374377.1:c.364+1G>A

Associated Genes

Fumarylacetoacetate Hydrolase
Back to search Result
Genomic Location

chr15:80160460

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

866205298

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
276700.G.2Egypt8PathogenicTyrosinemia, Type IImtiaz et al. 2011 4 patients from Egypt and Saudi Arabia
Download Table

Contributors

  • Sayeeda Hana: 12.08.2020

Edit History

  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 16.08.2020
  • Sayeeda Hana: 12.08.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.