NM_001168370.2:c.203G>A

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  2. NM_001168370.2:c.203G>A

HGVS Expressions

  • NG_016205.1:g.6360G>A
  • NM_001168370.2:c.203G>A
  • NP_001161842.2:p.Trp68Ter

Associated Genes

Cullin 7
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Genomic Location

chr6:43052586

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
273750.1.1Jordan2PathogenicThree M Syndrome 1Akawi et al. 2011
273750.1.2Jordan2PathogenicThree M Syndrome 1Akawi et al. 2011 Sibling of 273750.1.1
273750.1.3Jordan2PathogenicThree M Syndrome 1Akawi et al. 2011 Sibling of 273750.1.1
273750.1.4Jordan2PathogenicThree M Syndrome 1Akawi et al. 2011 Paternal first cousin of 273750.1.3
273750.1.5Jordan1PathogenicAkawi et al. 2011 Mother of 273750.1.1
273750.1.6Jordan1PathogenicAkawi et al. 2011 Father of 273750.1.1
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Contributors

  • Pratibha Nair: 28.07.2020

Edit History

  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 28.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.