NM_000104.3:c.487C>T

  1. Home
  2. NM_000104.3:c.487C>T

HGVS Expressions

  • NG_008386.2:g.6200C>T
  • NM_000104.3:c.487C>T
  • NP_000095.2:p.Arg163Cys
  • NC_000002.12:g.38074902G>A

Associated Genes

Cytochrome P450, Subfamily I, Polypeptide 1
Back to search Result
Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

104894978

Clinvar

96700

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231300.44Morocco2PathogenicGlaucoma 3, Primary Congenital, AHilal et al. 2010
Download Table

Contributors

  • Pratibha Nair: 28.04.2019

Edit History

  • Pratibha Nair: 22.11.2022
  • Sayeeda Hana: 26.09.2020
  • Pratibha Nair: 30.04.2019
  • Pratibha Nair: 28.04.2019
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.