NM_000104.3:c.685G>A

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  2. NM_000104.3:c.685G>A

HGVS Expressions

  • NG_008386.2:g.6398G>A
  • NM_000104.3:c.685G>A
  • NP_000095.2:p.Glu229Lys
  • NC_000002.12:g.38074704C>T

Associated Genes

Cytochrome P450, Subfamily I, Polypeptide 1
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Clinvar Clinical Significance

Benign, Likely Benign, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

57865060

Clinvar

68467

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231300.25Oman1Likely PathogenicGlaucoma 3, Primary Congenital, AEl-Gayar et al. 2009
231300.45Lebanon1Likely PathogenicGlaucoma 3, Primary Congenital, AAl-Haddad et al. 2016
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Contributors

  • Pratibha Nair: 28.04.2019

Edit History

  • Pratibha Nair: 22.11.2022
  • Sayeeda Hana: 26.09.2020
  • Pratibha Nair: 22.06.2020
  • Pratibha Nair: 29.04.2019
  • Pratibha Nair: 28.04.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.