NM_024513.4:c.2345del

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  2. NM_024513.4:c.2345del

HGVS Expressions

  • NG_031955.1:g.33836del
  • NM_024513.4:c.2345del
  • NP_078789.2:p.Gln782ArgfsTer32
  • NC_000003.12:g.45966989del

Associated Genes

FYVE And Coiled-Coil Domain Containing 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

775542878

Clinvar

2203348

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610019.3.1Saudi Arabia1PathogenicCataract 18Patel et al. 2017
610019.3.2Saudi Arabia1PathogenicCataract 18Patel et al. 2017 Relative of 610019.3.1
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Contributors

  • Sayeeda Hana: 16.03.2023

Edit History

  • Sayeeda Hana: 18.03.2023
  • Sayeeda Hana: 16.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.