NM_000104.3:c.517G>A

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  2. NM_000104.3:c.517G>A

HGVS Expressions

  • NG_008386.2:g.6230G>A
  • NM_000104.3:c.517G>A
  • NP_000095.2:p.Glu173Lys
  • NC_000002.12:g.38074872C>T

Associated Genes

Cytochrome P450, Subfamily I, Polypeptide 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

72481807

Clinvar

917724

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231300.20Saudi Arabia1PathogenicGlaucoma 3, Primary Congenital, AKhan et al. 2011
231300.30Morocco1PathogenicGlaucoma 3, Primary Congenital, AHilal et al. 2010 No response to surgery and medication
231300.34Morocco1PathogenicGlaucoma 3, Primary Congenital, AHilal et al. 2010
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Contributors

  • Pratibha Nair: 28.04.2019

Edit History

  • Pratibha Nair: 21.11.2022
  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 30.04.2019
  • Pratibha Nair: 29.04.2019
  • Pratibha Nair: 28.04.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.