NM_000359.3:c.877-2A>G

HGVS Expressions

  • NG_007150.2:g.8354A>G
  • NM_000359.3:c.877-2A>G

Associated Genes

Transglutaminase 1
Back to search Result
Genomic Location

chr14:24259813

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

279911

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
242300.10.3Egypt2PathogenicIchthyosis, Lamellar, 1Shawky et al. 2004 First cousin of 242300.10.1
242300.11.1Egypt2PathogenicIchthyosis, Lamellar, 1Shawky et al. 2004 The patient had a similarly affected dec...
242300.11.2Egypt1Shawky et al. 2004 Mother of 242300.11.1
© CAGS 2024. All rights reserved.