NM_000104.3:c.1331G>A

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  2. NM_000104.3:c.1331G>A

HGVS Expressions

  • NG_008386.2:g.10079G>A
  • NM_000104.3:c.1331G>A
  • NP_000095.2:p.Arg444Gln

Associated Genes

Cytochrome P450, Subfamily I, Polypeptide 1
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Genomic Location

chr2:38071023

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

72549376

Clinvar

845455

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231300.45Lebanon1Likely PathogenicGlaucoma 3, Primary Congenital, AAl-Haddad et al. 2016
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Contributors

  • Pratibha Nair: 22.06.2020

Edit History

  • Sami Bizzari: 08.06.2021
  • Pratibha Nair: 22.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.