NM_001367624.2:c.8901_8914dup

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HGVS Expressions

  • NG_012236.2:g.13901_13914dup
  • NM_001367624.2:c.8901_8914dup
  • NP_001354553.1:p.Glu2972GlyfsTer50
  • NC_000016.10:g.88436371_88436384dup

Associated Genes

Zinc Finger Protein 469
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CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
229200.G.1Saudi Arabia10PathogenicBrittle Cornea Syndrome 1Alazami et al, 2016 Group of five siblings. One of the sibli...
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Contributors

  • Asha Deepthi: 26.07.2024

Edit History

  • Asha Deepthi: 26.07.2024
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.