NM_000104.3:c.230T>C

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  2. NM_000104.3:c.230T>C

HGVS Expressions

  • NG_008386.2:g.5941T>C
  • NM_000104.3:c.230T>C
  • NP_000095.2:p.Leu77Pro

Associated Genes

Cytochrome P450, Subfamily I, Polypeptide 1
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Genomic Location

chr2:38075159

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231300.G.9Saudi ArabiaLikely PathogenicGlaucoma 3, Primary Congenital, ABejjani et al. 2000 One affected family
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Contributors

  • Pratibha Nair: 28.04.2019

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 29.04.2019
  • Pratibha Nair: 28.04.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.