NM_006019.3:c.702del

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HGVS Expressions

  • NG_007878.1:g.9627delG
  • NM_006019.3:c.702del
  • NP_006010.2:p.Ile235SerfsTer44
  • NC_000011.10:g.68043642del

Associated Genes

T Cell Immune Regulator 1
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
259700.1Lebanon20.12Likely PathogenicOsteopetrosis, Autosomal Recessive 1Souraty et al. 2007
259700.2Lebanon20.13Likely PathogenicOsteopetrosis, Autosomal Recessive 1Souraty et al. 2007 Has an older affected sister (deceased)....
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Contributors

  • Pratibha Nair: 30.04.2018

Edit History

  • Pratibha Nair: 06.02.2023
  • Sami Bizzari: 08.12.2022
  • Pratibha Nair: 12.10.2022
  • Pratibha Nair: 23.08.2022
  • Sami Bizzari: 01.08.2022
  • Rahila Mir: 10.02.2022
  • Sayeeda Hana: 08.07.2021
  • Pratibha Nair: 24.03.2020
  • Sayeeda Hana: 01.03.2020
  • Asha Deepthi: 16.12.2019
  • Sami Bizzari: 16.06.2019
  • Pratibha Nair: 05.12.2018
  • Pratibha Nair: 06.11.2018
  • Pratibha Nair: 05.11.2018
  • Pratibha Nair: 16.10.2018
  • Pratibha Nair: 10.10.2018
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© CAGS 2024. All rights reserved.