NM_000104.3:c.1409G>A

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  2. NM_000104.3:c.1409G>A

HGVS Expressions

  • NG_008386.2:g.10157G>A
  • NM_000104.3:c.1409G>A
  • NP_000095.2:p.Cys470Tyr

Associated Genes

Cytochrome P450, Subfamily I, Polypeptide 1
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Genomic Location

chr2:38070945

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

104894979

Clinvar

96699

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231300.43Morocco2PathogenicGlaucoma 3, Primary Congenital, AHilal et al. 2010 Bad prognosis
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Contributors

  • Pratibha Nair: 28.04.2019

Edit History

  • Sayeeda Hana: 26.09.2020
  • Pratibha Nair: 30.04.2019
  • Pratibha Nair: 28.04.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.