NM_000104.3:c.756C>A

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  2. NM_000104.3:c.756C>A

HGVS Expressions

  • NG_008386.2:g.6469C>A
  • NM_000104.3:c.756C>A
  • NP_000095.2:p.Asn252Lys

Associated Genes

Cytochrome P450, Subfamily I, Polypeptide 1
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Genomic Location

chr2:38074633

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

1032806404

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231300.G.15Saudi Arabia4PathogenicGlaucoma 3, Primary Congenital, AKhan et al. 2011 2 affected individuals
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Contributors

  • Pratibha Nair: 28.04.2019

Edit History

  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 03.03.2020
  • Pratibha Nair: 29.04.2019
  • Pratibha Nair: 28.04.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.