NM_001195129.2:c.1601T>G

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  2. NM_001195129.2:c.1601T>G

HGVS Expressions

  • NG_031969.1:g.9833T>G
  • NM_001195129.2:c.1601T>G
  • NP_001182058.1:p.Val534Gly
  • NC_000002.12:g.232525295T>G

Associated Genes

Protease, Serine, 56
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613517.G.5Saudi Arabia4Likely PathogenicMicrophthalmia, Isolated 6Nowilaty et al. 2013; Aldahmesh et al. 2011; Patel et al. 2018 2 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.