NM_000359.3:c.398_407dup

HGVS Expressions

  • NG_007150.2:g.6362_6371dup
  • NM_000359.3:c.398_407dup
  • NP_000350.1:p.Tyr136Ter

Associated Genes

Transglutaminase 1
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Genomic Location

chr14:24261796-24261805

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Clinvar

372530

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
242300.2.1Saudi Arabia2PathogenicIchthyosis, Lamellar, 1Wakil et al. 2016 Index patient
242300.2.2Saudi Arabia1Wakil et al. 2016 Father of 242300.2.1
242300.2.3Saudi Arabia1Wakil et al. 2016 Mother of 242300.2.1
242300.3.1Saudi Arabia2PathogenicIchthyosis, Lamellar, 1Wakil et al. 2016 Index patient
242300.3.2Saudi Arabia2PathogenicIchthyosis, Lamellar, 1Wakil et al. 2016 Relative of 242300.3.1
242300.3.3Saudi Arabia2PathogenicIchthyosis, Lamellar, 1Wakil et al. 2016 Relative of 242300.3.1
242300.3.4Saudi Arabia2PathogenicIchthyosis, Lamellar, 1Wakil et al. 2016 Relative of 242300.3.1, Sister of 242300...
242300.3.5Saudi Arabia1Wakil et al. 2016 Father of 242300.3.1
242300.3.6Saudi Arabia1Wakil et al. 2016 Mother of 242300.3.1
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