NM_000276.3:c.827T>C

HGVS Expressions

  • NG_008638.1:g.25907T>C
  • NM_000276.3:c.827T>C
  • NP_000267.2:p.Phe276Ser
  • NC_000023.11:g.129561181T>C

Associated Genes

OCRL Gene
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
309000.2Morocco1PathogenicLowe Oculocerebrorenal SyndromeChabaâ et al. 2006 De novo mutation
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