NM_147127.5:c.2653C>T

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HGVS Expressions

  • NG_015821.2:g.96017C>T
  • NM_147127.5:c.2653C>T
  • NP_667338.3:p.Arg885Ter
  • NC_000004.12:g.5618531G>A

Associated Genes

EvC Ciliary Complex Subunit 2
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

146538906

Clinvar

30665

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
225500.1.1Lebanon2PathogenicEllis-van Creveld SyndromeValencia et al. 2015
609706.2.1United Arab Emirates2Likely PathogenicEllis-van Creveld SyndromeElsayed O and Al-Shamsi A. 2022; Vona et al. 2017 Dual diagnosis of non-syndromic hearing ...
609706.2.3United Arab Emirates1Vona et al. 2017 Healthy mother of 609706.2.1.
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Contributors

  • Sami Bizzari: 11.10.2023
  • Pratibha Nair: 17.05.2020

Edit History

  • Sami Bizzari: 16.10.2023
  • Sami Bizzari: 11.10.2023
  • Pratibha Nair: 17.05.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.