NM_025074.6:c.3799C>T

  1. Home
  2. NM_025074.6:c.3799C>T

HGVS Expressions

  • NG_015812.1:g.334956C>T
  • NM_025074.6:c.3799C>T
  • NP_079350.5:p.Gln1267Ter
  • NC_000004.12:g.78387525C>T

Associated Genes

FRAS1 Gene
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

120074158

Clinvar

2812

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
219000.GLebanon10PathogenicFraser Syndrome 1van Haelst et al. 2008; McGregor et al. 2003 4 male patients and 1 female patient; 2 ...
Download Table

Contributors

  • Pratibha Nair: 20.12.2020

Edit History

  • Sami Bizzari: 13.07.2021
  • Pratibha Nair: 20.12.2020
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.