NM_000359.3:c.975_976CT[1]

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  2. NM_000359.3:c.975_976CT[1]

HGVS Expressions

  • NG_007150.2:g.8454_8455CT[1]
  • NM_000359.3:c.975_976CT[1]
  • NP_000350.1:p.Ser326fs

Associated Genes

Transglutaminase 1
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Genomic Location

14:24259711-24259712

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

dbSNP

786205485

Clinvar

191044

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
242300.4.1Saudi Arabia2PathogenicIchthyosis, Lamellar, 1Wakil et al. 2016 Index patient
242300.4.2Saudi Arabia1Wakil et al. 2016 Father of 242300.4.1
242300.4.3Saudi Arabia1Wakil et al. 2016 Mother of 242300.4.1
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Contributors

  • Sayeeda Hana: 31.08.2020

Edit History

  • Sayeeda Hana: 05.10.2020
  • Sayeeda Hana: 14.09.2020
  • Sayeeda Hana: 31.08.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.