present in Gene: KLHL24
present in Chromosome: 3
Position on Chromosome: 183650358
Alleles of this Variant: T/C
rs1057515580 in
KLHL24 gene and
Epidermolysis Bullosa Simplex Kobner
PMID 27889062 2016 Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility.
rs1057515580 in
KLHL24 gene and
Fragile skin
PMID 27889062 2016 Here, we used whole-exome and targeted sequencing to identify monoallelic mutations, c.1A>G and c.2T>C, in the translation initiation codon of the gene encoding kelch-like protein 24 (KLHL24) in 14 individuals with a distinct skin-fragility phenotype and skin cleavage within basal keratinocytes.