Variant: rs121918731 

    present in Gene: TGM1
    present in Chromosome: 14
    Position on Chromosome: 24259769
    Alleles of this Variant: G/A;C;T

rs121918731 in TGM1 gene and Congenital Nonbullous Ichthyosiform Erythroderma PMID 19890349 2010 Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients.

PMID 19212342 2009 Transglutaminase-1 and bathing suit ichthyosis: molecular analysis of gene/environment interactions.

PMID 16968736 2006 Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype.

PMID 27025581 2016 Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients.

PMID 19863506 2010 Genotype-phenotype correlations with TGM1: clustering of mutations in the bathing suit ichthyosis and self-healing collodion baby variants of lamellar ichthyosis.

rs121918731 in TGM1 gene and Ichthyosis Congenita I PMID 11511296 2001 Novel mutations of the transglutaminase 1 gene in lamellar ichthyosis.

PMID 19890349 2010 Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients.

PMID 9326318 1997 Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population.

PMID 7824952 1995 Mutations of keratinocyte transglutaminase in lamellar ichthyosis.

PMID 11251583 2001 Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma.

PMID 21895619 2012 Bathing suit ichthyosis with summer exacerbation: a temperature-sensitive case.

PMID 26220141 2016 Identification and functional characterization of a novel transglutaminase 1 gene mutation associated with autosomal recessive congenital ichthyosis.

PMID 14996130 2004 A Japanese patient with a mild form of lamellar ichthyosis harbouring two missense mutations in the core domain of the transglutaminase 1 gene.

PMID 7773290 1995 Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis.

PMID 19262603 2009 ABCA12 is a major causative gene for non-bullous congenital ichthyosiform erythroderma.

PMID 11407995 2001 Compound heterozygous TGM1 mutations including a novel missense mutation L204Q in a mild form of lamellar ichthyosis.

PMID 24419105 2014 Novel TGM1 missense mutation p.Arg727Gln in a case of self-healing collodion baby.