NM_001031709.3:c.215_216delinsT

HGVS Expressions

  • NM_001031709.3:c.215_216delinsT
  • NP_001026879.2:p.Lys72IlefsTer10
  • NC_000010.11:g.88582210_88582211delinsA

Associated Genes

Renalase
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Indel

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
609360.1.1Saudi Arabia2Likely PathogenicRNLS Associated CataractAldahmesh et al. 2012; Patel et al. 2017 Patient had undergone "bilateral lens as...
609360.1.2Saudi Arabia2Likely PathogenicRNLS Associated CataractAldahmesh et al. 2012; Patel et al. 2017 Brother of 609360.1.1. Patient had under...
609360.1.3Saudi Arabia2Likely PathogenicRNLS Associated CataractAldahmesh et al. 2012; Patel et al. 2017 Brother of 609360.1.1. Patient had under...
609360.1.G.1Saudi Arabia5Aldahmesh et al. 2012 Father, mother, 2 sisters and a brother ...
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