NM_001289808.2:c.166C>T

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HGVS Expressions

  • NG_033080.2:g.3824G>A
  • NM_001289808.2:c.166C>T
  • NP_001276737.1:p.Arg56Trp
  • NC_000011.10:g.111911559G>A

Associated Genes

Crystallin, Alpha-B
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

387907338

Clinvar

41929

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613763.1.1Saudi Arabia2PathogenicCataract 16, Multiple TypesAbu Safieh et al. 2009; Khan et al. 2010; Khan et al. 2015 Patient had cataract surgery as an infan...
613763.1.2Saudi Arabia2PathogenicCataract 16, Multiple TypesKhan et al. 2010; Khan et al. 2015 Sister of 6137673.1.1. Patient had catar...
613763.1.3Saudi Arabia2PathogenicCataract 16, Multiple TypesAbu Safieh et al. 2009; Khan et al. 2010; Khan et al. 2015 Daughter of 6137673.1.1. Patient had cat...
613763.1.4Saudi Arabia2PathogenicCataract 16, Multiple TypesAbu Safieh et al. 2009; Khan et al. 2010; Khan et al. 2015 Daughter of 6137673.1.1. Patient had cat...
613763.1.5Saudi Arabia2Abu Safieh et al. 2009; Khan et al. 2010; Khan et al. 2015 Daughter of 6137673.1.1. Asymptomatic bu...
613763.1.6Saudi Arabia2Abu Safieh et al. 2009; Khan et al. 2010; Khan et al. 2015 Son of 6137673.1.1. Asymptomatic but ret...
613763.1.7Saudi Arabia2Khan et al. 2010; Khan et al. 2015 Mother of 6137673.1.1. Examination revea...
613763.1.8Saudi Arabia1Abu Safieh et al. 2009; Khan et al. 2010 Husband (and first-cousin) of 6137673.1....
613763.2.1Saudi Arabia2PathogenicCataract 16, Multiple TypesKhan et al. 2015 Patient had cataract surgery at 11 years...
613763.2.2Saudi Arabia2PathogenicCataract 16, Multiple TypesKhan et al. 2015 Sister of 613763.2.1. Patient had catara...
613763.2.3Saudi Arabia2PathogenicCataract 16, Multiple TypesKhan et al. 2015 Brother of 613763.2.1. Patient had catar...
613763.2.4Saudi Arabia2Khan et al. 2015 Sister of 613763.2.1 and twin of 613763....
613763.2.5Saudi Arabia1Khan et al. 2015 Mother of 613763.2.1. Asymptomatic but f...
613763.2.6Saudi Arabia1Khan et al. 2015 Father of 613763.2.1.
613763.G.1Saudi Arabia8PathogenicCataract 16, Multiple TypesPatel et al. 2017 4 patients
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Contributors

  • Sayeeda Hana: 28.01.2023

Edit History

  • Sayeeda Hana: 14.03.2023
  • Sayeeda Hana: 28.01.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.