NM_000104.3:c.1517_1536del

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HGVS Expressions

  • NG_008386.2:g.10265_10284del
  • NM_000104.3:c.1517_1536del
  • NP_000095.2:p.Ser506Thrfs

Associated Genes

Cytochrome P450, Subfamily I, Polypeptide 1
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Genomic Location

chr2:38070818-38070838

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

869255198

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231300.G.14Saudi 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: 26.09.2020
  • Pratibha Nair: 29.04.2019
  • Pratibha Nair: 28.04.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.