NM_004431.5:c.1405T>C

HGVS Expressions

  • NG_021396.1:g.25410T>C
  • NM_004431.5:c.1405T>C
  • NP_004422.2:p.Tyr469His
  • NC_000001.11:g.16135678A>G

Associated Genes

Ephrin Receptor EphA2
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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
116600.1.1Saudi Arabia2PathogenicCataract 6, Multiple TypesKhan et al. 2015; Aldahmesh et al. 2012 Patient had three older sisters who were...
116600.1.2Saudi Arabia2PathogenicCataract 6, Multiple TypesKhan et al. 2015; Aldahmesh et al. 2012 Brother of 116600.1.1
116600.1.3Saudi Arabia1Khan et al. 2015; Aldahmesh et al. 2012 Father of 116600.1.1. Unavailable for ex...
116600.1.4Saudi Arabia1Khan et al. 2015; Aldahmesh et al. 2012 Mother of 116600.1.1. She had few small ...
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