NM_003571.3:c.598_599dup

HGVS Expressions

  • NG_012425.1:g.53569_53570dup
  • NM_003571.3:c.598_599dup
  • NP_003562.1:p.Ala201ArgfsX19
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Genomic Location

Chr3: 133448515

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
611567.1.1Saudi Arabia2PathogenicCataract 12, Multiple TypesAldamesh et al, 2011; Khan et al. 2015; Patel et al. 2017 First report of recessive transmission o...
611567.1.2Saudi Arabia2PathogenicCataract 12, Multiple TypesAldamesh et al, 2011; Khan et al. 2015; Patel et al. 2017 Sister of 611567.1.1
611567.1.3Saudi Arabia2PathogenicCataract 12, Multiple TypesAldamesh et al, 2011; Khan et al. 2015; Patel et al. 2017 Sister of 611567.1.1
611567.1.4Saudi Arabia1PathogenicAldamesh et al, 2011; Khan et al. 2015 Mother of 611567.1.1, 611567.1.2, and 61...
611567.1.5Saudi Arabia1PathogenicAldamesh et al, 2011; Khan et al. 2015 Father of 611567.1.1, 611567.1.2, and 61...
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