NM_000104.3:c.1090G>A

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HGVS Expressions

  • NG_008386.2:g.9838G>A
  • NM_000104.3:c.1090G>A
  • NP_000095.2:p.Val364Met
  • NC_000002.12:g.38071264C>T

Associated Genes

Cytochrome P450, Subfamily I, Polypeptide 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

72549379

Clinvar

1339668

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231300.31Morocco1Likely PathogenicGlaucoma 3, Primary Congenital, AHilal et al. 2010 Bad prognosis
231300.40Morocco1Likely PathogenicGlaucoma 3, Primary Congenital, AHilal et al. 2010 Bad prognosis
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Contributors

  • Pratibha Nair: 28.04.2019

Edit History

  • Pratibha Nair: 21.11.2022
  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 30.04.2019
  • Pratibha Nair: 28.04.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.