NM_000104.3:c.1265T>C

  1. Home
  2. NM_000104.3:c.1265T>C

HGVS Expressions

  • NG_008386.2:g.10013T>C
  • NM_000104.3:c.1265T>C
  • NP_000095.2:p.Val422Gly

Associated Genes

Cytochrome P450, Subfamily I, Polypeptide 1
Back to search Result
Genomic Location

chr2:38071091

CTGA Clinical Significance

Likely Benign, Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231300.2Kuwait2PathogenicGlaucoma 3, Primary Congenital, AAlfadhli et al. 2006 Good prognosis with surgery
231300.3Kuwait2PathogenicGlaucoma 3, Primary Congenital, AAlfadhli et al. 2006 Good prognosis with surgery
231300.10Kuwait2Likely BenignGlaucoma 3, Primary Congenital, AAlfadhli et al. 2006 Good prognosis with surgery
231300.11Kuwait2Likely BenignGlaucoma 3, Primary Congenital, AAlfadhli et al. 2006 Good prognosis with medication and surge...
231300.G.1Kuwait18Likely BenignAlfadhli et al. 2006 105 controls. Variant found in 18 chromo...
Download Table

Contributors

  • Pratibha Nair: 28.04.2019

Edit History

  • Rahila Mir: 07.02.2022
  • Pratibha Nair: 29.04.2019
  • Pratibha Nair: 28.04.2019
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.