Variant: rs112292549 

    present in Gene: TGM5
    present in Chromosome: 15
    Position on Chromosome: 43260151
    Alleles of this Variant: C/A

rs112292549 in TGM5 gene and Peeling skin syndrome, acral type PMID 16380904 2005 A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome.

PMID 24019772 2013 DNA mutation analysis detected two heterozygous TGM5 mutations: c.2T>C, p.M1T in exon 1 and c.337G>T, p.G113C in exon 3 in keeping with the diagnosis of APSS.

PMID 24628291 2014 Under-recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations.

PMID 22622422 2012 The recurrent mutation p.G113C was found in 9 patients, but also in 3 of 100 control individuals in a heterozygous state, indicating that APSS might be more widespread than hitherto expected.

PMID 22036214 2012 A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome.

PMID 26707537 2016 Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic.

PMID 20164844 2010 Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals.