NM_147127.5:c.2012_2015delTAAT

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HGVS Expressions

  • NG_015821.1:g.88763del TAAT
  • NM_147127.5:c.2012_2015delTAAT
  • NP_667338.3:p.Leu671Ter

Associated Genes

EvC Ciliary Complex Subunit 2
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Genomic Location

chr4:5625780_5625783

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
225500.2.1Lebanon2PathogenicEllis-van Creveld SyndromeValencia et al. 2015 Had a deceased brother born with polydac...
225500.2.2Lebanon2PathogenicEllis-van Creveld SyndromeValencia et al. 2015 First cousin of 225500.2.1
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Contributors

  • Pratibha Nair: 17.05.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 22.09.2021
  • Pratibha Nair: 17.05.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.