present in Gene: TGM1
present in Chromosome: 14
Position on Chromosome: 24260503
Alleles of this Variant: A/T
rs1199770893 in
TGM1 gene and
Ichthyosis Congenita I
PMID 18948357 2009 Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA.
PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.