NM_004826.4:c.1184+1G>T

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HGVS Expressions

  • NG_034065.1:g.8389G>T
  • NM_004826.4:c.1184+1G>T
  • NP_004817.2:p.?
  • NC_000002.12:g.232484471C>A

Associated Genes

Endothelin-Converting Enzyme-Like 1
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615065.3.1United Arab Emirates2NALikely PathogenicArthrogryposis, Distal, Type 5DHamzeh et al. 2017 Proband
615065.3.2United Arab Emirates1NAHamzeh et al. 2017 Father of 615065.3.1
615065.3.3United Arab Emirates1NAHamzeh et al. 2017 Mother of 615065.3.1
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Contributors

  • Asha Deepthi: 13.07.2021

Edit History

  • Pratibha Nair: 06.12.2022
  • Rahila Mir: 10.02.2022
  • Asha Deepthi: 13.07.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.