NM_000104.3:c.1064_1076delGAGTGCAGGCAG

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  2. NM_000104.3:c.1064_1076delGAGTGCAGGCAG

HGVS Expressions

  • NG_008386.2:g.9812_9824delGAGTGCAGGCAGA
  • NM_000104.3:c.1064_1076delGAGTGCAGGCAG
  • NP_000095.2:p.Arg355Hisfs

Associated Genes

Cytochrome P450, Subfamily I, Polypeptide 1
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Genomic Location

chr2:38071278-38071290

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

72549380

Clinvar

282564

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231300.18Saudi Arabia2PathogenicGlaucoma 3, Primary Congenital, AKhan et al. 2011
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Contributors

  • Pratibha Nair: 28.04.2019

Edit History

  • 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.