Variant: rs121912834

present in Gene: COL7A1 present in Chromosome: 3 Position on Chromosome: 48572941 Alleles of this Variant: C/G;T

rs121912834 in COL7A1 gene and Transient bullous dermolysis of the newborn PMID 9856844 1998 Transient bullous dermolysis of the newborn associated with compound heterozygosity for recessive and dominant COL7A1 mutations.