NM_000214.2:c.1388_1389insT

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HGVS Expressions

  • NG_007496.1:g.29979_29980insT
  • NM_000214.2:c.1388_1389insT
  • NP_000205.1:p.Cys464LeufsTer6
  • NC_000020.11:g.10649067_10649068insA

Associated Genes

Jagged 1
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Insertion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
118450.1.1Lebanon1Likely PathogenicAlagille Syndrome 1El-Rassy et al. 2008
118450.1.2Lebanon1Likely PathogenicAlagille Syndrome 1El-Rassy et al. 2008 Sister of 118450.1.1
118450.1.3Lebanon1Likely PathogenicAlagille Syndrome 1El-Rassy et al. 2008 Father of 118450.1.1
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Contributors

  • Sayeeda Hana: 30.12.2019

Edit History

  • Rahila Mir: 10.02.2022
  • Pratibha Nair: 09.06.2021
  • Sayeeda Hana: 30.12.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.