NM_001032382.2:c.209_210del

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HGVS Expressions

  • NG_015967.1:g.9042_9043del
  • NM_001032382.2:c.209_210del
  • NP_001027554.1:p.Thr70ArgfsTer10
  • NC_000023.11:g.48901959_48901960del

Associated Genes

Polyglutamine-Binding Protein 1
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CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
309500.2Egypt1PathogenicRenpenning Syndrome 1Shaheen et al. 2019
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Contributors

  • Sayeeda Hana: 26.01.2022

Edit History

  • Rahila Mir: 07.02.2022
  • Sayeeda Hana: 28.01.2022
  • Sayeeda Hana: 26.01.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.