NM_001887.4:c.171del

HGVS Expressions

  • NG_009826.1:g.6879del
  • NM_001887.4:c.171del
  • NP_001878.1:p.Asn58ThrfsTer107
  • NC_000022.11:g.26616151del

Associated Genes

Crystallin, Beta-B1
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

419532

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
611544.1.1Saudi Arabia2PathogenicCataract 17, Multiple TypesKhan et al. 2015; Khan et al. 2012; Patel et al. 2017
611544.1.2Saudi Arabia2PathogenicCataract 17, Multiple TypesKhan et al. 2015; Khan et al. 2012; Patel et al. 2017 Cataract surgery done at 8 years of age ...
611544.1.3Saudi Arabia2PathogenicCataract 17, Multiple TypesKhan et al. 2015; Khan et al. 2012; Patel et al. 2017 Brother of 611544.1.1
611544.1.4Saudi Arabia1Khan et al. 2015; Khan et al. 2012 Father of 611544.1.1. He was found to ha...
611544.1.5Saudi Arabia1Khan et al. 2015; Khan et al. 2012 Mother of 611544.1.1. She did not have s...
611544.1.6Saudi Arabia1Khan et al. 2015; Khan et al. 2012 Brother of 611544.1.1. He did not have s...
611544.2Saudi Arabia2PathogenicCataract 17, Multiple TypesKhan et al. 2015; Khan et al. 2012; Patel et al. 2017 Cataract surgery done at 6 years of age ...
611544.3.1Saudi Arabia2PathogenicCataract 17, Multiple TypesKhan et al. 2015; Khan et al. 2012; Patel et al. 2017 Cataract surgery done at 11 years of age...
611544.3.2Saudi Arabia2PathogenicCataract 17, Multiple TypesKhan et al. 2015; Khan et al. 2012; Patel et al. 2017 Sister of 611544.3.1. Patient also had "...
611544.4Saudi Arabia2PathogenicCataract 17, Multiple TypesKhan et al. 2015; Khan et al. 2012; Patel et al. 2017
611544.5Saudi Arabia2PathogenicCataract 17, Multiple TypesKhan et al. 2015; Khan et al. 2012; Patel et al. 2017
611544.6.1Saudi Arabia2PathogenicCataract 17, Multiple TypesKhan et al. 2015; Khan et al. 2012; Patel et al. 2017 Subject had an additional 2 brothers and...
611544.6.2Saudi Arabia2PathogenicCataract 17, Multiple TypesKhan et al. 2015; Khan et al. 2012; Patel et al. 2017 Sister of 611544.6.1. She had a "Dull re...
611544.6.3Saudi Arabia2PathogenicCataract 17, Multiple TypesKhan et al. 2015; Khan et al. 2012; Patel et al. 2017 Sister of 611544.6.1.
611544.6.4Saudi Arabia1Khan et al. 2015; Khan et al. 2012 Father of 611544.6.1. Subject had occasi...
611544.6.5Saudi Arabia1Khan et al. 2015; Khan et al. 2012; Patel et al. 2017 Mother of 611544.6.1. Subject had occasi...
611544.7.1Saudi Arabia2PathogenicCataract 17, Multiple TypesKhan et al. 2015; Khan et al. 2012; Patel et al. 2017
611544.8.1Saudi Arabia2PathogenicCataract 17, Multiple TypesKhan et al. 2015; Khan et al. 2012; Patel et al. 2017
611544.8.2Saudi Arabia2PathogenicCataract 17, Multiple TypesKhan et al. 2015; Khan et al. 2012; Patel et al. 2017 Brother of 611544.8.1
611544.9.1Saudi Arabia2PathogenicCataract 17, Multiple TypesKhan et al. 2015; Khan et al. 2012; Patel et al. 2017 Subject had a "dull red reflex from amet...
611544.9.2Saudi Arabia1Khan et al. 2015; Khan et al. 2012; Patel et al. 2017 Father of 611544.9.1. Subject had occasi...
611544.10.1Saudi Arabia2PathogenicCataract 17, Multiple TypesKhan et al. 2015; Khan et al. 2012; Patel et al. 2017 Subject had a "dull red reflex from amet...
611544.10.2Saudi Arabia1Khan et al. 2015; Khan et al. 2012 Father of 611544.10.1. Subject had occas...
611544.10.3Saudi Arabia1Khan et al. 2015; Khan et al. 2012 Brother of 611544.10.1. Subject had occa...
611544.11.1Saudi Arabia2PathogenicCataract 17, Multiple TypesPatel et al. 2017
611544.11.2Saudi Arabia2PathogenicCataract 17, Multiple TypesPatel et al. 2017 Relative of 611544.11.1
611544.3.G.1Saudi Arabia3Khan et al. 2015; Khan et al. 2012 Father, mother and brother of 611544.3.1...
611544.7.G.1Saudi Arabia3Khan et al. 2015; Khan et al. 2012 Father, mother and sister of 611544.7.1....
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