NM_000276.3:c.1672G>T

HGVS Expressions

  • NG_008638.1:g.39935G>T
  • NM_000276.3:c.1672G>T
  • NP_000267.2:p.Glu558Ter
  • NC_000023.11:g.129575209G>T

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
309000.1.1Lebanon1PathogenicLowe Oculocerebrorenal SyndromeSatre et al. 1999 Similarly affected brother not genotyped
309000.1.2Lebanon1PathogenicSatre et al. 1999 Sister of 309000.1.1
309000.1.3Lebanon1PathogenicSatre et al. 1999 Mother of 309000.1.1
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