NM_000359.3:c.1085T>G

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HGVS Expressions

  • NG_007150.2:g.9018T>G
  • NM_000359.3:c.1085T>G
  • NP_000350.1:p.Leu362Arg
  • NC_000014.9:g.24259149A>C

Associated Genes

Transglutaminase 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
242300.1.1United Arab Emirates2Likely PathogenicIchthyosis, Lamellar, 1Bastaki et al. 2017
242300.1.2United Arab Emirates1Bastaki et al. 2017 Mother of 242300.1.1
242300.1.3United Arab Emirates1Bastaki et al. 2017 Fatther of 242300.1.1
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Contributors

  • Pratibha Nair: 09.08.2020

Edit History

  • Pratibha Nair: 03.01.2023
  • Pratibha Nair: 23.08.2022
  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 31.08.2020
  • Pratibha Nair: 09.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.