NM_001195129.2:c.1555G>A

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  2. NM_001195129.2:c.1555G>A

HGVS Expressions

  • NG_031969.1:g.9787G>A
  • NM_001195129.2:c.1555G>A
  • NP_001182058.1:p.Gly519Arg
  • NC_000002.12:g.232525249G>A

Associated Genes

Protease, Serine, 56
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

730882162

Clinvar

183175

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613517.G.1Saudi Arabia10Likely PathogenicMicrophthalmia, Isolated 6Nowilaty et al. 2013; Aldahmesh et al. 2011 5 affected siblings
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Contributors

  • Pratibha Nair: 02.03.2023

Edit History

  • Pratibha Nair: 04.10.2023
  • Pratibha Nair: 02.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.