NM_000276.3:c.1498C>G

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  2. NM_000276.3:c.1498C>G

HGVS Expressions

  • NG_008638.1:g.34021C>G
  • NM_000276.3:c.1498C>G
  • NP_000267.2:p.Arg500Gly
  • NC_000023.11:g.129569295C>G

Associated Genes

OCRL Gene
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Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

398123287

Clinvar

92721

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
309000.3United Arab Emirates1Likely PathogenicLowe Oculocerebrorenal SyndromeSaleh et al. 2021 Similarly affected brothers
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Contributors

  • Pratibha Nair: 24.01.2022

Edit History

  • Pratibha Nair: 24.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.