NM_000359.3:c.428G>A

HGVS Expressions

  • NG_007150.2:g.6392G>A
  • NM_000359.3:c.428G>A
  • NP_000350.1:p.Arg143His

Associated Genes

Transglutaminase 1
Back to search Result
Genomic Location

chr14:24261775

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

12481

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
242300.5.1Egypt2PathogenicIchthyosis, Lamellar, 1Russell et al. 1995
242300.5.2Egypt2PathogenicIchthyosis, Lamellar, 1Russell et al. 1995 First cousin, once removed, of 242300.5....
242300.5.3Egypt1Russell et al. 1995 Father of 242300.5.1
242300.5.4Egypt1Russell et al. 1995 Mother of 242300.5.1
242300.5.5Egypt1Russell et al. 1995 Father of 242300.5.2
242300.5.6Egypt1Russell et al. 1995 Mother of 242300.5.2
242300.6.1Egypt2PathogenicIchthyosis, Lamellar, 1Shawky et al. 2004 The patient had an affected brother that...
242300.6.2Egypt1Shawky et al. 2004 Father of 242300.6.1
242300.7.1Egypt2PathogenicIchthyosis, Lamellar, 1Shawky et al. 2004 The patient had a similarly affected fem...
242300.7.2Egypt1Shawky et al. 2004 Mother of 242300.7.1
242300.8.1Egypt2PathogenicIchthyosis, Lamellar, 1Shawky et al. 2004 The patient had a similarly affected sis...
242300.8.2Egypt1Shawky et al. 2004 Mother of 242300.8.1
242300.9.1Egypt2PathogenicIchthyosis, Lamellar, 1Shawky et al. 2004
242300.9.2Egypt1Shawky et al. 2004 Mother of 242300.9.1
242300.10.1Egypt2PathogenicIchthyosis, Lamellar, 1Shawky et al. 2004 The patient had a similarly affected bro...
242300.10.2Egypt1PathogenicIchthyosis, Lamellar, 1Shawky et al. 2004 Mother of 242300.10.1
© CAGS 2024. All rights reserved.