NM_000104.3:c.1168C>A

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  2. NM_000104.3:c.1168C>A

HGVS Expressions

  • NG_008386.2:g.9916C>A
  • NM_000104.3:c.1168C>A
  • NP_000095.2:p.Arg390Ser

Associated Genes

Cytochrome P450, Subfamily I, Polypeptide 1
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Genomic Location

chr2:38071186

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

148542782

Clinvar

335952

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231300.36Morocco2Likely PathogenicGlaucoma 3, Primary Congenital, AHilal et al. 2010 Bad prognosis
231300.G.8Saudi ArabiaLikely PathogenicGlaucoma 3, Primary Congenital, ABejjani et al. 2000 One affected family
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Contributors

  • Pratibha Nair: 28.04.2019

Edit History

  • 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.