NM_001168370.2:c.263del

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HGVS Expressions

  • NG_016205.1:g.6420del
  • NM_001168370.2:c.263del
  • NP_001161842.2:p.Val88AlafsTer27
  • NC_000006.12:g.43052526del

Associated Genes

Cullin 7
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

786205651

Clinvar

191331

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
273750.2.1United Arab Emirates2PathogenicThree M Syndrome 1Deeb et al. 2015 The patient also had two similarly affec...
273750.2.2United Arab Emirates2PathogenicThree M Syndrome 1Deeb et al. 2015 Sister of 273750.2.1
273750.2.3United Arab Emirates1Deeb et al. 2015 Father of 273750.2.1
273750.2.4United Arab Emirates1Deeb et al. 2015 Mother of 273750.2.1
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Contributors

  • Sayeeda Hana: 07.07.2021

Edit History

  • Asha Deepthi: 07.12.2022
  • Sayeeda Hana: 07.07.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.