NM_000394.4:c.160C>T

HGVS Expressions

  • NG_009823.1:g.5229C>T
  • NM_000394.4:c.160C>T
  • NP_000385.1:p.Arg54Cys
  • NC_000021.9:g.43169259C>T

Associated Genes

Crystallin, Alpha-A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

68457

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604219.1.1Saudi Arabia2PathogenicCataract 9, Multiple TypesKhan et al. 2007; Khan et al. 2015 Maternal first cousin had a similar phen...
604219.1.2Saudi Arabia2PathogenicCataract 9, Multiple TypesKhan et al. 2007; Khan et al. 2015 Brother of 604219.1.1
604219.1.3Saudi Arabia2PathogenicCataract 9, Multiple TypesKhan et al. 2007; Khan et al. 2015 Sister of 604219.1.1
604219.1.G.1Saudi Arabia3Khan et al. 2007; Khan et al. 2015 Father, mother and sibling of 604219.1.1...
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